(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000251.2 in the MSH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007110.2, covering MSH2 transcript NM_000251.2.
(upstream sequence)
g.4948
aagct c.-121
. . . . . . g.5008
gattgggtgtggtcgccgtggccggacgccgctcgggggacgtgggaggggaggcgggaa c.-61
. . . . . . g.5068
acagcttagtgggtgtggggtcgcgcattttcttcaaccaggaggtgaggaggtttcgac c.-1
. . . . . . g.5128
ATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGTG c.60
M A V Q P K E T L Q L E S A A E V G F V p.20
. . . . . . g.5188
CGCTTCTTTCAGGGCATGCCGGAGAAGCCGACCACCACAGTGCGCCTTTTCGACCGGGGC c.120
R F F Q G M P E K P T T T V R L F D R G p.40
. . . . . . g.5248
GACTTCTATACGGCGCACGGCGAGGACGCGCTGCTGGCCGCCCGGGAGGTGTTCAAGACC c.180
D F Y T A H G E D A L L A A R E V F K T p.60
. . . | 02 . . . g.10306
CAGGGGGTGATCAAGTACATGGGGCCGGCAG | GAGCAAAGAATCTGCAGAGTGTTGTGCTT c.240
Q G V I K Y M G P A G | A K N L Q S V V L p.80
. . . . . . g.10366
AGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTT c.300
S K M N F E S F V K D L L L V R Q Y R V p.100
. . . . . . g.10426
GAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCA c.360
E V Y K N R A G N K A S K E N D W Y L A p.120
| 03 . . . . . . g.12024
TATAAG | GCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGAT c.420
Y K | A S P G N L S Q F E D I L F G N N D p.140
. . . . . . g.12084
ATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAG c.480
M S A S I G V V G V K M S A V D G Q R Q p.160
. . . . . . g.12144
GTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGAT c.540
V G V G Y V D S I Q R K L G L C E F P D p.180
. . . . . . g.12204
AATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTT c.600
N D Q F S N L E A L L I Q I G P K E C V p.200
. . . . | 04 . . g.14305
TTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAG | ATAATTCAAAGAGGA c.660
L P G G E T A G D M G K L R Q | I I Q R G p.220
. . . . . . g.14365
GGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGAC c.720
G I L I T E R K K A D F S T K D I Y Q D p.240
. . . . . . g.14425
CTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAA c.780
L N R L L K G K K G E Q M N S A V L P E p.260
. | 05 . . . . . g.16193
ATGGAGAATCAG | GTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTA c.840
M E N Q | V A V S S L S A V I K F L E L L p.280
. . . . . . g.16253
TCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATG c.900
S D D S N F G Q F E L T T F D F S Q Y M p.300
. . . . | 06 . . g.18190
AAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAG | GGTTCTGTTGAAGATACC c.960
K L D I A A V R A L N L F Q | G S V E D T p.320
. . . . . . g.18250
ACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGA c.1020
T G S Q S L A A L L N K C K T P Q G Q R p.340
. . . . . | 07 . g.31622
CTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGAATAGAGGAGAG | ATTG c.1080
L V N Q W I K Q P L M D K N R I E E R | L p.360
. . . . . . g.31682
AATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTA c.1140
N L V E A F V E D A E L R Q T L Q E D L p.380
. . . . . . g.31742
CTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAAC c.1200
L R R F P D L N R L A K K F Q R Q A A N p.400
. . . . . . g.31802
TTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCT c.1260
L Q D C Y R L Y Q G I N Q L P N V I Q A p.420
. | 08 . . . . . g.47468
CTGGAAAAACATGAAG | GAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTT c.1320
L E K H E G | K H Q K L L L A V F V T P L p.440
. . . . . . g.47528
ACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATG c.1380
T D L R S D F S K F Q E M I E T T L D M p.460
| 09 . . . . . . g.64961
GATCAG | GTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAA c.1440
D Q | V E N H E F L V K P S F D P N L S E p.480
. . . . . . g.65021
TTAAGAGAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCC c.1500
L R E I M N D L E K K M Q S T L I S A A p.500
. | 10 . . . . . g.68584
AGAGATCTTG | GCTTGGACCCTGGCAAACAGATTAAACTGGATTCCAGTGCACAGTTTGGA c.1560
R D L G | L D P G K Q I K L D S S A Q F G p.520
. . . . . . g.68644
TATTACTTTCGTGTAACCTGTAAGGAAGAAAAAGTCCTTCGTAACAATAAAAACTTTAGT c.1620
Y Y F R V T C K E E K V L R N N K N F S p.540
. . . . | 11 . . g.72860
ACTGTAGATATCCAGAAGAATGGTGTTAAATTTACCAACAG | CAAATTGACTTCTTTAAAT c.1680
T V D I Q K N G V K F T N S | K L T S L N p.560
. . . . . . g.72920
GAAGAGTATACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAA c.1740
E E Y T K N K T E Y E E A Q D A I V K E p.580
. | 12 . . . . g.76942
ATTGTCAATATTTCTTCAG | GCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCT c.1800
I V N I S S G | Y V E P M Q T L N D V L A p.600
. . . . . . g.77002
CAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTA c.1860
Q L D A V V S F A H V S N G A P V P Y V p.620
. . . . . . g.77062
CGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCT c.1920
R P A I L E K G Q G R I I L K A S R H A p.640
. . . . . . g.77122
TGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGAT c.1980
C V E V Q D E I A F I P N D V Y F E K D p.660
. . | 13 . . . . g.78278
AAACAGATGTTCCACATCATTACTG | GCCCCAATATGGGAGGTAAATCAACATATATTCGA c.2040
K Q M F H I I T G | P N M G G K S T Y I R p.680
. . . . . . g.78338
CAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCA c.2100
Q T G V I V L M A Q I G C F V P C E S A p.700
. . . . . . g.78398
GAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAA c.2160
E V S I V D C I L A R V G A G D S Q L K p.720
. . . . . | 14 . g.80158
GGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAG | GTCTGCAACC c.2220
G V S T F M A E M L E T A S I L R | S A T p.740
. . . . . . g.80218
AAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTT c.2280
K D S L I I I D E L G R G T S T Y D G F p.760
. . . . . . g.80278
GGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTT c.2340
G L A W A I S E Y I A T K I G A F C M F p.780
. . . . . . g.80338
GCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTA c.2400
A T H F H E L T A L A N Q I P T V N N L p.800
. . . . . | 15 g.82574
CATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAG | GT c.2460
H V T A L T T E E T L T M L Y Q V K K G | p.820
. . . . . . g.82634
GTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTA c.2520
V C D Q S F G I H V A E L A N F P K H V p.840
. . . . . . g.82694
ATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCG c.2580
I E C A K Q K A L E L E E F Q Y I G E S p.860
. . . . . | 16 . g.84661
CAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAG | CAAGGT c.2640
Q G Y D I M E P A A K K C Y L E R E | Q G p.880
. . . . . . g.84721
GAAAAAATTATTCAGGAGTTCCTGTCCAAGGTGAAACAAATGCCCTTTACTGAAATGTCA c.2700
E K I I Q E F L S K V K Q M P F T E M S p.900
. . . . . . g.84781
GAAGAAAACATCACAATAAAGTTAAAACAGCTAAAAGCTGAAGTAATAGCAAAGAATAAT c.2760
E E N I T I K L K Q L K A E V I A K N N p.920
. . . . g.84826
AGCTTTGTAAATGAAATCATTTCACGAATAAAAGTTACTACGTGA c.2805
S F V N E I I S R I K V T T X p.934
. . . . . . g.84886
aaaatcccagtaatggaatgaaggtaatattgataagctattgtctgtaatagttttata c.*60
. . . . . . g.84946
ttgttttatattaaccctttttccatagtgttaactgtcagtgcccatgggctatcaact c.*120
. . . . . . g.85006
taataagatatttagtaatattttactttgaggacattttcaaagatttttattttgaaa c.*180
. . . . . . g.85066
aatgagagctgtaactgaggactgtttgcaattgacataggcaataataagtgatgtgct c.*240
. . . g.85105
gaattttataaataaaatcatgtagtttgtggaatttga c.*279
(downstream sequence)
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