(used for mutation description)
(last modified August 2, 2011)
This file was created to facilitate the description of sequence variants in the CHEK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering CHEK2 transcript NM_007194.3.
(upstream sequence)
. g.5022
gcaggtttagcg c.-61
. . . . . . | 02 g.12123
ccactctgctggctgaggctgcggagagtgtgcggctccaggtgggctcacgcg | gtcgtg c.-1
. . . . . . g.12183
ATGTCTCGGGAGTCGGATGTTGAGGCTCAGCAGTCTCATGGCAGCAGTGCCTGTTCACAG c.60
M S R E S D V E A Q Q S H G S S A C S Q p.20
. . . . . . g.12243
CCCCATGGCAGCGTTACCCAGTCCCAAGGCTCCTCCTCACAGTCCCAGGGCATATCCAGC c.120
P H G S V T Q S Q G S S S Q S Q G I S S p.40
. . . . . . g.12303
TCCTCTACCAGCACGATGCCAAACTCCAGCCAGTCCTCTCACTCCAGCTCTGGGACACTG c.180
S S T S T M P N S S Q S S H S S S G T L p.60
. . . . . . g.12363
AGCTCCTTAGAGACAGTGTCCACTCAGGAACTCTATTCTATTCCTGAGGACCAAGAACCT c.240
S S L E T V S T Q E L Y S I P E D Q E P p.80
. . . . . . g.12423
GAGGACCAAGAACCTGAGGAGCCTACCCCTGCCCCCTGGGCTCGATTATGGGCCCTTCAG c.300
E D Q E P E E P T P A P W A R L W A L Q p.100
. | 03 . . . . g.21518
GATGGATTTGCCAATCTTG | AATGTGTGAATGACAACTACTGGTTTGGGAGGGACAAAAGC c.360
D G F A N L | E C V N D N Y W F G R D K S p.120
. . . . . . g.21578
TGTGAATATTGCTTTGATGAACCACTGCTGAAAAGAACAGATAAATACCGAACATACAGC c.420
C E Y C F D E P L L K R T D K Y R T Y S p.140
. . | 04 . . . . g.21756
AAGAAACACTTTCGGATTTTCAGG | GAAGTGGGTCCTAAAAACTCTTACATTGCATACATA c.480
K K H F R I F R | E V G P K N S Y I A Y I p.160
. . . . . . g.21816
GAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGC c.540
E D H S G N G T F V N T E L V G K G K R p.180
. . . . . | 05 . g.27367
CGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAG | TTTTTGTC c.600
R P L N N N S E I A L S L S R N K | V F V p.200
. . . . . . g.27427
TTTTTTGATCTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATAC c.660
F F D L T V D D Q S V Y P K A L R D E Y p.220
. . | 06 . . . . g.34864
ATCATGTCAAAAACTCTTGGAAG | TGGTGCCTGTGGAGAGGTAAAGCTGGCTTTCGAGAGG c.720
I M S K T L G S | G A C G E V K L A F E R p.240
. . . . . . g.34924
AAAACATGTAAGAAAGTAGCCATAAAGATCATCAGCAAAAGGAAGTTTGCTATTGGTTCA c.780
K T C K K V A I K I I S K R K F A I G S p.260
. | 07 . . . . . g.36833
GCAAGAGAGGCA | GACCCAGCTCTCAATGTTGAAACAGAAATAGAAATTTTGAAAAAGCTA c.840
A R E A | D P A L N V E T E I E I L K K L p.280
| 08 . . . . . . g.43332
AATCAT | CCTTGCATCATCAAGATTAAAAACTTTTTTGATGCAGAAGATTATTATATTGTT c.900
N H | P C I I K I K N F F D A E D Y Y I V p.300
| 09 . . . . . g.46959
TTGGAATT | GATGGAAGGGGGAGAGCTGTTTGACAAAGTGGTGGGGAATAAACGCCTGAAA c.960
L E L | M E G G E L F D K V V G N K R L K p.320
. . . . | 10 . g.49869
GAAGCTACCTGCAAGCTCTATTTTTACCAGATGCTCTTGGCTGTGCAG | TACCTTCATGAA c.1020
E A T C K L Y F Y Q M L L A V Q | Y L H E p.340
. . . . . . g.49929
AACGGTATTATACACCGTGACTTAAAGCCAGAGAATGTTTTACTGTCATCTCAAGAAGAG c.1080
N G I I H R D L K P E N V L L S S Q E E p.360
. | 11 . . . . . g.51016
GACTGTCTTATAAAG | ATTACTGATTTTGGGCACTCCAAGATTTTGGGAGAGACCTCTCTC c.1140
D C L I K | I T D F G H S K I L G E T S L p.380
. . . . . . g.51076
ATGAGAACCTTATGTGGAACCCCCACCTACTTGGCGCCTGAAGTTCTTGTTTCTGTTGGG c.1200
M R T L C G T P T Y L A P E V L V S V G p.400
. . . . . | 12 g.51603
ACTGCTGGGTATAACCGTGCTGTGGACTGCTGGAGTTTAGGAGTTATTCTTTTTATCTG | C c.1260
T A G Y N R A V D C W S L G V I L F I C | p.420
. . . . . . g.51663
CTTAGTGGGTATCCACCTTTCTCTGAGCATAGGACTCAAGTGTCACTGAAGGATCAGATC c.1320
L S G Y P P F S E H R T Q V S L K D Q I p.440
. . . . . | 13 . g.52732
ACCAGTGGAAAATACAACTTCATTCCTGAAGTCTGGGCAGAAGTCTCAGAGAAAG | CTCTG c.1380
T S G K Y N F I P E V W A E V S E K | A L p.460
. . . . . . g.52792
GACCTTGTCAAGAAGTTGTTGGTAGTGGATCCAAAGGCACGTTTTACGACAGAAGAAGCC c.1440
D L V K K L L V V D P K A R F T T E E A p.480
. . | 14 . . . . g.57668
TTAAGACACCCGTGGCTTCAG | GATGAAGACATGAAGAGAAAGTTTCAAGATCTTCTGTCT c.1500
L R H P W L Q | D E D M K R K F Q D L L S p.500
. . . . | 15 . . g.58876
GAGGAAAATGAATCCACAGCTCTACCCCAGGTTCTAGCCCAG | CCTTCTACTAGTCGAAAG c.1560
E E N E S T A L P Q V L A Q | P S T S R K p.520
. . . . . . g.58936
CGGCCCCGTGAAGGGGAAGCCGAGGGTGCCGAGACCACAAAGCGCCCAGCTGTGTGTGCT c.1620
R P R E G E A E G A E T T K R P A V C A p.540
. g.58948
GCTGTGTTGTGA c.1632
A V L X p.543
. . . . . . g.59008
actccgtggtttgaacacgaaagaaatgtaccttctttcactctgtcatctttcttttct c.*60
. . . . . . g.59068
ttgagtctgtttttttatagtttgtattttaattatgggaataattgctttttcacagtc c.*120
. . . g.59102
actgatgtacaattaaaaacctgatggaacctgg c.*154
(downstream sequence)
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