(used for variant description)
(last modified September 2, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_017534.5 in the MYH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013014.1, covering MYH2 transcript NM_017534.5.
(upstream sequence)
g.5008
atagctat c.-121
. . . . . . | 02 g.5286
ccatataaaagagcccttggaatgaggctgactcgtcctgctttaaaaagctccaag | aac c.-61
. . . . | 03 . g.6780
tgtctcactcccaggctacatcttctcacttgctaacaag | gacctctgagttcagcagcc c.-1
. . . . . . g.6840
ATGAGTTCAGACTCAGAATTGGCTGTTTTTGGGGAGGCTGCTCCTTTCCTCCGAAAGTCT c.60
M S S D S E L A V F G E A A P F L R K S p.20
. . . . . . g.6900
GAAAGGGAGCGCATTGAGGCCCAGAATAGGCCCTTTGATGCCAAAACATCTGTCTTTGTG c.120
E R E R I E A Q N R P F D A K T S V F V p.40
. . . . . . g.6960
GCGGAGCCCAAAGAATCCTTTGTCAAAGGGACCATCCAGAGCAGAGAAGGAGGAAAAGTG c.180
A E P K E S F V K G T I Q S R E G G K V p.60
. . | 04 . . . . g.7118
ACGGTGAAGACTGAGGGAGGAGCG | ACTCTGACAGTGAAGGATGATCAGGTCTTCCCCATG c.240
T V K T E G G A | T L T V K D D Q V F P M p.80
. . . . . . g.7178
AACCCTCCCAAATATGACAAGATCGAGGATATGGCCATGATGACTCATCTGCATGAGCCT c.300
N P P K Y D K I E D M A M M T H L H E P p.100
. . . . | 05 . g.9210
GCTGTGCTGTACAACCTCAAAGAACGTTATGCAGCCTGGATGATCTAC | ACCTATTCAGGT c.360
A V L Y N L K E R Y A A W M I Y | T Y S G p.120
. . . . . . g.9270
CTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCTGTGTATAAGCCCGAGGTGGTG c.420
L F C V T V N P Y K W L P V Y K P E V V p.140
. . . . . . g.9330
ACAGCCTACCGAGGCAAAAAGCGCCAGGAGGCCCCGCCCCACATCTTCTCCATCTCTGAC c.480
T A Y R G K K R Q E A P P H I F S I S D p.160
. . | 06 . . . | 07 . g.10691
AACGCCTATCAGTTCATGCTGACTG | ACCGAGAGAATCAGTCAATCCTGATCAC | TGGAGAA c.540
N A Y Q F M L T D | R E N Q S I L I T | G E p.180
. . . . . . g.10751
TCTGGTGCAGGGAAGACTGTGAACACCAAGCGTGTCATCCAGTACTTTGCAACAATTGCA c.600
S G A G K T V N T K R V I Q Y F A T I A p.200
. . . . | 08 . g.10909
GTTACTGGTGAGAAGAAGAAGGAAGAAATTACTTCTGGCAAAATACAG | GGGACTCTGGAA c.660
V T G E K K K E E I T S G K I Q | G T L E p.220
. . . . . . g.10969
GATCAAATCATCAGTGCCAACCCCCTACTGGAGGCCTTTGGCAACGCCAAGACCGTGAGG c.720
D Q I I S A N P L L E A F G N A K T V R p.240
. . | 09 . . . . g.11578
AATGACAACTCCTCTCGCTTT | GGTAAATTCATCAGAATCCACTTTGGCACTACTGGAAAA c.780
N D N S S R F | G K F I R I H F G T T G K p.260
. . | 10 . . . . g.11762
CTGGCATCTGCTGATATTGAAACAT | ATCTGCTAGAGAAGTCTAGAGTTGTTTTCCAGCTT c.840
L A S A D I E T Y | L L E K S R V V F Q L p.280
. . . . . . g.11822
AAGGCTGAGAGAAGTTATCATATTTTTTACCAGATTACATCGAATAAGAAACCAGAACTT c.900
K A E R S Y H I F Y Q I T S N K K P E L p.300
| 11 . . . . . . g.14059
ATTG | AAATGCTTCTGATTACCACGAACCCATATGATTACCCATTTGTCAGTCAAGGGGAG c.960
I E | M L L I T T N P Y D Y P F V S Q G E p.320
. . . . | 12 . g.14646
ATCAGTGTGGCCAGCATCGATGATCAGGAAGAACTGATGGCCACAGAT | AGTGCTATTGAT c.1020
I S V A S I D D Q E E L M A T D | S A I D p.340
. . . . . . g.14706
ATTTTGGGCTTTACTAATGAAGAAAAGGTCTCCATTTACAAGCTCACGGGGGCTGTGATG c.1080
I L G F T N E E K V S I Y K L T G A V M p.360
. . . . . . g.14766
CATTATGGGAACCTAAAATTTAAGCAAAAGCAGCGTGAGGAGCAAGCAGAGCCAGATGGC c.1140
H Y G N L K F K Q K Q R E E Q A E P D G p.380
| 13. . . . . . g.15191
ACAGAAG | TTGCTGACAAGGCGGCCTACCTCCAGAGTCTGAACTCTGCAGATCTGCTCAAA c.1200
T E V | A D K A A Y L Q S L N S A D L L K p.400
. . . . . . g.15251
GCTCTCTGCTACCCCAGGGTCAAGGTCGGCAATGAGTATGTCACCAAAGGCCAGACTGTA c.1260
A L C Y P R V K V G N E Y V T K G Q T V p.420
| 14 . . . . . . g.15400
GAACAG | GTGTCCAACGCAGTAGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTG c.1320
E Q | V S N A V G A L A K A V Y E K M F L p.440
. . . . . . g.15460
TGGATGGTTGCCCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATC c.1380
W M V A R I N Q Q L D T K Q P R Q Y F I p.460
. . . | 15 . . . g.16889
GGGGTCTTGGACATTGCTGGTTTTGAGATTTTTGAT | TTCAACAGCCTGGAGCAGCTGTGC c.1440
G V L D I A G F E I F D | F N S L E Q L C p.480
. . . . . . g.16949
ATCAACTTCACCAATGAGAAACTGCAACAGTTTTTCAACCACCACATGTTCGTGCTGGAG c.1500
I N F T N E K L Q Q F F N H H M F V L E p.500
. . . . . . g.17009
CAGGAGGAGTACAAGAAGGAAGGCATCGAGTGGACGTTCATCGACTTCGGGATGGACCTG c.1560
Q E E Y K K E G I E W T F I D F G M D L p.520
. . | 16. . . . g.17191
GCTGCCTGCATCGAGCTCATCGAGAAG | CCTATGGGCATCTTCTCCATCCTGGAAGAGGAG c.1620
A A C I E L I E K | P M G I F S I L E E E p.540
. . . . . . g.17251
TGCATGTTCCCTAAGGCAACAGACACCTCCTTCAAGAACAAGCTGTATGACCAGCACCTG c.1680
C M F P K A T D T S F K N K L Y D Q H L p.560
. . . . . . g.17311
GGCAAGTCTGCCAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAAGGCCGAGGCCCACTTC c.1740
G K S A N F Q K P K V V K G K A E A H F p.580
. . . . . . g.17371
GCTCTGATTCACTATGCTGGTGTTGTGGACTACAACATTACTGGCTGGCTGGAGAAGAAC c.1800
A L I H Y A G V V D Y N I T G W L E K N p.600
. . . . . . g.17431
AAGGACCCCCTGAATGAGACCGTGGTTGGACTGTACCAGAAGTCTGCAATGAAAACTCTA c.1860
K D P L N E T V V G L Y Q K S A M K T L p.620
. . . | 17. . . g.18117
GCTCAGCTCTTCTCTGGGGCTCAAACTGCTGAAGGAG | AGGGAGCTGGTGGAGGGGCCAAG c.1920
A Q L F S G A Q T A E G E | G A G G G A K p.640
. . . . . | 18 . g.19341
AAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTCTGCCCTTTTCAGA | GAGAAT c.1980
K G G K K K G S S F Q T V S A L F R | E N p.660
. . . . . . g.19401
TTGAACAAGCTGATGACCAACCTCAGGAGTACCCATCCTCACTTTGTGAGGTGTATCATC c.2040
L N K L M T N L R S T H P H F V R C I I p.680
. . | 19 . . . . g.19548
CCCAATGAGACAAAAACTCCTG | GTGCCATGGAGCATGAGCTTGTCCTCCACCAGCTGAGG c.2100
P N E T K T P G | A M E H E L V L H Q L R p.700
. . . . . . g.19608
TGTAACGGTGTGCTGGAAGGCATCCGCATCTGTAGGAAAGGATTTCCAAGCAGAATCCTT c.2160
C N G V L E G I R I C R K G F P S R I L p.720
. . | 20 . . . . g.21108
TATGCAGACTTCAAACAGAG | ATACAAGGTATTAAATGCAAGTGCAATCCCTGAAGGGCAA c.2220
Y A D F K Q R | Y K V L N A S A I P E G Q p.740
. . . . . . g.21168
TTCATTGATAGCAAGAAGGCCTCTGAGAAGCTCCTTGCATCCATCGACATTGACCACACC c.2280
F I D S K K A S E K L L A S I D I D H T p.760
. . | 21 . . . . g.21315
CAGTATAAATTTGGGCACACCAAG | GTCTTTTTCAAAGCTGGTCTTCTGGGGCTCCTAGAG c.2340
Q Y K F G H T K | V F F K A G L L G L L E p.780
. . . . . . g.21375
GAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGG c.2400
E M R D D K L A Q L I T R T Q A R C R G p.800
. . . . | 22 . . g.22831
TTCTTGGCAAGAGTGGAGTACCAGAGGATGGTGGAGAGAAG | GGAGGCCATCTTCTGTATC c.2460
F L A R V E Y Q R M V E R R | E A I F C I p.820
. . . . . . g.22891
CAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCCCTGGATGAAACTCTTCTTC c.2520
Q Y N I R S F M N V K H W P W M K L F F p.840
. . . . . . g.22951
AAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAA c.2580
K I K P L L K S A E T E K E M A T M K E p.860
. . . . . . g.23011
GAATTTCAGAAAATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAA c.2640
E F Q K I K D E L A K S E A K R K E L E p.880
. . . . . | 23. g.24629
GAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCAGCTCCAAGTTCAGGCT | GAA c.2700
E K M V T L L K E K N D L Q L Q V Q A | E p.900
. . . . . . g.24689
GCCGAAGGCTTGGCTGATGCAGAGGAAAGGTGTGACCAGCTAATCAAAACCAAAATCCAG c.2760
A E G L A D A E E R C D Q L I K T K I Q p.920
. . . . . . g.24749
CTAGAAGCCAAAATCAAAGAGGTGACTGAGAGAGCTGAGGATGAGGAAGAGATCAATGCT c.2820
L E A K I K E V T E R A E D E E E I N A p.940
. . . . . . g.24809
GAGCTGACAGCCAAGAAGAGGAAACTGGAGGATGAATGTTCAGAACTCAAGAAAGACATT c.2880
E L T A K K R K L E D E C S E L K K D I p.960
. . . . . . g.24869
GATGACCTTGAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACAGAAAACAAG c.2940
D D L E L T L A K V E K E K H A T E N K p.980
| 24 . . . . . . g.25020
| GTGAAAAACCTCACAGAAGAGATGGCAGGTCTGGATGAAACCATTGCTAAGCTGACCAAG c.3000
| V K N L T E E M A G L D E T I A K L T K p.1000
. . . . . . g.25080
GAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGATGACCTGCAGGCAGAGGAG c.3060
E K K A L Q E A H Q Q T L D D L Q A E E p.1020
. . . . . | 25. g.25222
GACAAAGTCAACACCCTGACCAAAGCTAAAATCAAACTTGAACAACAAGTGGATGAT | CTT c.3120
D K V N T L T K A K I K L E Q Q V D D | L p.1040
. . . . . . g.25282
GAAGGGTCCTTGGAGCAAGAAAAGAAACTTCGCATGGACCTAGAAAGGGCTAAGAGGAAA c.3180
E G S L E Q E K K L R M D L E R A K R K p.1060
. . . . . . g.25342
CTTGAGGGTGACTTGAAGTTGGCCCAAGAATCCATAATGGACATTGAAAATGAGAAACAG c.3240
L E G D L K L A Q E S I M D I E N E K Q p.1080
. . | 26 . . . . g.25485
CAACTTGATGAAAAGCTCAAAAA | GAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATT c.3300
Q L D E K L K K | K E F E I S N L Q S K I p.1100
. . . . . | 27 . g.25627
GAAGATGAACAGGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAA | GCCCGC c.3360
E D E Q A L G I Q L Q K K I K E L Q | A R p.1120
. . . . . . g.25687
ATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTCCCGGGCCAAAGCAGAGAAG c.3420
I E E L E E E I E A E R A S R A K A E K p.1140
. . . . . . g.25747
CAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGT c.3480
Q R S D L S R E L E E I S E R L E E A G p.1160
. . . . . . g.25807
GGGGCCACTTCAGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATG c.3540
G A T S A Q I E M N K K R E A E F Q K M p.1180
. . . . . . g.25867
CGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCACAGCGGCCACCCTGAGGAAG c.3600
R R D L E E A T L Q H E A T A A T L R K p.1200
. . . . . . g.25927
AAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAG c.3660
K H A D S V A E L G E Q I D N L Q R V K p.1220
. . . . . . g.25987
CAGAAGCTGGAGAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAAT c.3720
Q K L E K E K S E M K M E I D D L A S N p.1240
. . | 28 . . . . g.26862
GTAGAAACGGTCTCCAAAGCCAAG | GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGAC c.3780
V E T V S K A K | G N L E K M C R T L E D p.1260
. . . . . . g.26922
CAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACT c.3840
Q L S E L K S K E E E Q Q R L I N D L T p.1280
. . . | 29 . . . g.27673
GCGCAGAGGGGGCGCCTGCAGACTGAATCTG | GTGAGTTTTCACGCCAGCTTGATGAAAAG c.3900
A Q R G R L Q T E S G | E F S R Q L D E K p.1300
. . . . . . g.27733
GAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTTTACTCAACAGATTGAAGAA c.3960
E A L V S Q L S R G K Q A F T Q Q I E E p.1320
. . . | 30 . . . g.27935
TTAAAGAGGCAACTTGAAGAGGAGATAAAA | GCCAAGAACGCCCTGGCGCATGCCCTGCAG c.4020
L K R Q L E E E I K | A K N A L A H A L Q p.1340
. . . . . . g.27995
TCTTCCCGCCACGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAATCCAAG c.4080
S S R H D C D L L R E Q Y E E E Q E S K p.1360
. . . . . . g.28055
GCCGAGCTGCAGAGAGCACTGTCCAAGGCCAACACCGAGGTTGCCCAATGGAGGACCAAA c.4140
A E L Q R A L S K A N T E V A Q W R T K p.1380
. . . . | 31. . g.28837
TACGAGACGGACGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAA | GAAGAAGCTGGCC c.4200
Y E T D A I Q R T E E L E E A K | K K L A p.1400
. . . . . . g.28897
CAGCGGCTGCAGGCAGCTGAGGAACATGTAGAAGCTGTGAACGCCAAATGTGCTTCCCTC c.4260
Q R L Q A A E E H V E A V N A K C A S L p.1420
. . . . . . g.28957
GAAAAGACGAAGCAGCGGCTGCAGAATGAGGTCGAGGACCTCATGCTTGATGTGGAGAGG c.4320
E K T K Q R L Q N E V E D L M L D V E R p.1440
. . . . . | 32 . g.29093
ACAAATGCCGCCTGTGCCGCCCTTGACAAAAAGCAAAGGAACTTCGATAAG | ATCCTGGCA c.4380
T N A A C A A L D K K Q R N F D K | I L A p.1460
. . . . . . g.29153
GAATGGAAACAGAAATGTGAGGAAACGCATGCTGAGCTTGAGGCCTCCCAGAAGGAGGCC c.4440
E W K Q K C E E T H A E L E A S Q K E A p.1480
. . . . . . g.29213
CGTTCCCTTGGCACTGAGCTGTTCAAGATAAAGAATGCCTATGAGGAATCTTTGGATCAG c.4500
R S L G T E L F K I K N A Y E E S L D Q p.1500
. . . | 33. . . g.29375
CTAGAAACCCTGAAGCGAGAGAACAAAAACTTACAGC | AGGAGATTTCTGACCTCACGGAA c.4560
L E T L K R E N K N L Q Q | E I S D L T E p.1520
. . . . . . g.29435
CAGATTGCAGAAGGAGGGAAACGTATCCATGAACTGGAGAAAATAAAGAAACAAGTGGAA c.4620
Q I A E G G K R I H E L E K I K K Q V E p.1540
. . . . | 34 . . g.29653
CAAGAAAAGTGTGAACTTCAGGCTGCTTTAGAAGAAGCAGAG | GCATCTCTTGAACATGAA c.4680
Q E K C E L Q A A L E E A E | A S L E H E p.1560
. . . . . . g.29713
GAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGG c.4740
E G K I L R I Q L E L N Q V K S E V D R p.1580
. . . . . . g.29773
AAAATTGCTGAAAAAGATGAGGAAATTGACCAGCTGAAGAGAAACCACATTAGAATCGTG c.4800
K I A E K D E E I D Q L K R N H I R I V p.1600
. . . . . . g.29833
GAGTCCATGCAGAGCACGCTGGATGCTGAGATCAGGAGTAGGAATGATGCCATTAGGCTC c.4860
E S M Q S T L D A E I R S R N D A I R L p.1620
. . . . . . g.29893
AAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGC c.4920
K K K M E G D L N E M E I Q L N H A N R p.1640
. . . . . | 35 . g.30040
ATGGCTGCTGAGGCCCTGAGGAACTACAGGAACACCCAAGGCATCCTCAAG | GATACCCAG c.4980
M A A E A L R N Y R N T Q G I L K | D T Q p.1660
. . . . . . g.30100
ATCCACCTGGATGATGCTCTCCGGAGCCAGGAGGACCTGAAGGAACAGCTGGCCATGGTG c.5040
I H L D D A L R S Q E D L K E Q L A M V p.1680
. . . . . . g.30160
GAGCGCAGAGCCAACCTGCTGCAGGCTGAGATCGAGGAGCTGCGGGCCACTCTGGAACAG c.5100
E R R A N L L Q A E I E E L R A T L E Q p.1700
. . . . . . g.30220
ACAGAGAGGAGCAGAAAAATCGCAGAACAGGAGCTCCTGGATGCCAGTGAGCGTGTTCAG c.5160
T E R S R K I A E Q E L L D A S E R V Q p.1720
. | 36 . . . . . g.30861
CTACTGCACACCCAG | AACACCAGCCTGATCAACACCAAGAAGAAGCTGGAGACAGATATT c.5220
L L H T Q | N T S L I N T K K K L E T D I p.1740
. . . . . . g.30921
TCCCAAATGCAAGGAGAGATGGAGGACATTCTCCAGGAAGCCCGCAATGCAGAAGAAAAG c.5280
S Q M Q G E M E D I L Q E A R N A E E K p.1760
. . | 37 . . . . g.31073
GCCAAGAAGGCCATCACTGAT | GCCGCCATGATGGCTGAGGAGCTGAAGAAGGAGCAGGAC c.5340
A K K A I T D | A A M M A E E L K K E Q D p.1780
. . . . . . g.31133
ACCAGCGCCCACCTGGAGCGGATGAAGAAGAACATGGAGCAGACCGTGAAGGATCTGCAG c.5400
T S A H L E R M K K N M E Q T V K D L Q p.1800
. . . . . . g.31193
CTCCGTCTGGATGAGGCTGAGCAGCTGGCCCTGAAGGGTGGGAAGAAGCAGATCCAGAAA c.5460
L R L D E A E Q L A L K G G K K Q I Q K p.1820
. | 38 . . . . . g.31336
CTGGAGGCCAGG | GTACGGGAGCTGGAAGGAGAGGTTGAGAGTGAGCAAAAGCGTAATGCT c.5520
L E A R | V R E L E G E V E S E Q K R N A p.1840
. . . . . | 39. g.31518
GAGGCTGTCAAAGGTCTGCGCAAACATGAGAGGCGAGTGAAGGAACTCACTTACCAG | ACG c.5580
E A V K G L R K H E R R V K E L T Y Q | T p.1860
. . . . . . g.31578
GAAGAAGATAGAAAGAATATTCTCAGGCTTCAAGATTTGGTAGATAAACTTCAGGCAAAA c.5640
E E D R K N I L R L Q D L V D K L Q A K p.1880
. . . | 40 . . . g.33295
GTGAAATCTTATAAGAGACAAGCTGAGGAGGCT | GAGGAACAATCCAACACCAATCTAGCT c.5700
V K S Y K R Q A E E A | E E Q S N T N L A p.1900
. . . . . . g.33355
AAATTCCGCAAGCTCCAGCATGAGCTGGAGGAGGCCGAGGAACGGGCTGACATTGCTGAG c.5760
K F R K L Q H E L E E A E E R A D I A E p.1920
. . . . . . g.33415
TCCCAGGTGAACAAACTGCGGGTGAAGAGCCGGGAGGTTCACACAAAAGTCATAAGTGAA c.5820
S Q V N K L R V K S R E V H T K V I S E p.1940
g.33421
GAGTGA c.5826
E X p.1941
. . . . . . g.33481
tcatgtcctgatgccatggaatgactgaagacaggcacaaaatgtgacatctttggtcat c.*60
. . . . . . g.33541
ttccctctgtaattattgtgtattctaccctgttgcaaaggaaataaagcatagggtagt c.*120
. g.33553
ttgcaaacaata c.*132
(downstream sequence)
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