(used for variant description)
(last modified February 16, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002472.2 in the MYH8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013015.1, covering MYH8 transcript NM_002472.2.
(upstream sequence)
. . | 02 . g.5258
atttccaccaagaacccagag | agtggaacacttct c.-61
. . . | 03 . . g.6723
gaacctgcatttttatctggaactccagag | gcagaatcctttgctaaataaatcgcagcc c.-1
. . . . . . g.6783
ATGAGTGCGAGCTCAGACGCTGAGATGGCTGTTTTTGGCGAAGCTGCTCCCTACCTTCGA c.60
M S A S S D A E M A V F G E A A P Y L R p.20
. . . . . . g.6843
AAATCAGAAAAGGAGCGGATTGAGGCCCAAAACAAGCCGTTTGATGCTAAAACATCTGTC c.120
K S E K E R I E A Q N K P F D A K T S V p.40
. . . . . . g.6903
TTTGTGGCGGAGCCCAAGGAATCCTATGTGAAGAGCACTATACAAAGCAAAGAAGGAGGG c.180
F V A E P K E S Y V K S T I Q S K E G G p.60
. . . | 04 . . . g.7950
AAAGTAACCGTAAAGACTGAAGGTGGAGCA | ACTCTAACTGTCAGGGAAGACCAAGTCTTC c.240
K V T V K T E G G A | T L T V R E D Q V F p.80
. . . . . . g.8010
CCTATGAACCCTCCGAAATATGACAAAATTGAGGACATGGCCATGATGACTCATCTACAC c.300
P M N P P K Y D K I E D M A M M T H L H p.100
. . . . . | 05 . g.8155
GAGCCTGGAGTGCTGTACAACCTCAAAGAGCGCTATGCAGCCTGGATGATCTAC | ACCTAC c.360
E P G V L Y N L K E R Y A A W M I Y | T Y p.120
. . . . . . g.8215
TCAGGCCTCTTCTGTGTCACCGTCAACCCCTACAAGTGGCTGCCGGTGTACAAGCCCGAG c.420
S G L F C V T V N P Y K W L P V Y K P E p.140
. . . . . . g.8275
GTGGTGGCTGCCTACAGAGGCAAAAAGCGCCAGGAGGCCCCGCCCCACATCTTCTCCATC c.480
V V A A Y R G K K R Q E A P P H I F S I p.160
. . . | 06 . . | 07 g.11371
TCTGACAATGCCTATCAGTTCATGTTGACTG | ATCGAGAGAATCAGTCCATCCTGATCAC | C c.540
S D N A Y Q F M L T D | R E N Q S I L I T | p.180
. . . . . . g.11431
GGAGAATCTGGTGCCGGAAAGACTGTGAACACCAAGCGTGTCATCCAATACTTTGCAACA c.600
G E S G A G K T V N T K R V I Q Y F A T p.200
. . . . | 08 . g.11578
ATTGCAGTTACTGGAGAGAAGAAGAAGGATGAATCTGGCAAAATGCAG | GGGACTCTGGAA c.660
I A V T G E K K K D E S G K M Q | G T L E p.220
. . . . . . g.11638
GATCAAATCATCAGCGCCAATCCCCTACTGGAGGCCTTTGGCAATGCCAAAACTGTGAGG 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.11810
AATGACAACTCCTCTCGCTTT | GGTAAATTCATTAGAATCCACTTTGGTACTACAGGGAAG 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.12501
CTGGCATCTGCTGATATAGAAACAT | ATCTTTTAGAAAAGTCCAGAGTTACTTTCCAGCTA c.840
L A S A D I E T Y | L L E K S R V T F Q L p.280
. . . . . . g.12561
AAGGCGGAAAGAAGCTACCATATTTTTTATCAGATCACTTCCAATAAGAAGCCAGATCTA c.900
K A E R S Y H I F Y Q I T S N K K P D L p.300
| 11 . . . . . . g.12711
ATTG | AAATGCTCCTGATCACCACCAACCCATATGACTATGCCTTCGTCAGTCAGGGGGAG c.960
I E | M L L I T T N P Y D Y A F V S Q G E p.320
. . . . | 12 . g.12922
ATCACAGTTCCCAGTATTGATGACCAAGAAGAGTTGATGGCCACTGAT | AGTGCCATTGAC c.1020
I T V P S I D D Q E E L M A T D | S A I D p.340
. . . . . . g.12982
ATCCTGGGCTTCACTCCTGAAGAGAAAGTGTCCATCTATAAACTCACAGGGGCTGTGATG c.1080
I L G F T P E E K V S I Y K L T G A V M p.360
. . . . . . g.13042
CATTATGGGAACATGAAATTCAAGCAAAAGCAGCGTGAGGAGCAAGCTGAGCCAGATGGC c.1140
H Y G N M K F K Q K Q R E E Q A E P D G p.380
| 13. . . . . . g.14275
ACAGAAG | TCGCTGACAAGGCAGCCTATCTCCAGAGTCTGAACTCTGCAGACCTACTCAAA 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.14335
GCCCTCTGCTACCCTAGGGTCAAGGTTGGCAATGAGTATGTCACCAAAGGCCAGACTGTG 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.14485
CAGCAG | GTGTACAATGCGGTGGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTG c.1320
Q Q | V Y N A V G A L A K A V Y E K M F L p.440
. . . . . . g.14545
TGGATGGTCACCCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATC c.1380
W M V T R I N Q Q L D T K Q P R Q Y F I p.460
. . . | 15 . . . g.16027
GGGGTCTTGGACATTGCTGGCTTTGAAATCTTTGAT | TTTAACAGCCTGGAGCAGCTGTGC 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.16087
ATCAACTTCACCAACGAGAAACTGCAACAGTTTTTCAACCACCACATGTTTGTGCTAGAG 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.16147
CAGGAGGAGTACAAGAAGGAAGGCATCGAGTGGACGTTCATTGACTTTGGGATGGACCTG 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.17395
GCTGCCTGCATTGAGCTCATTGAGAAG | CCACTGGGCATCTTCTCCATCCTGGAAGAGGAG c.1620
A A C I E L I E K | P L G I F S I L E E E p.540
. . . . . . g.17455
TGCATGTTCCCTAAGGCAACGGACACCTCCTTCAAGAACAAGCTGTATGACCAGCACCTG 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.17515
GGCAAGTCTGCCAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAAGGCTGAGGCCCACTTC 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.17575
TCTCTGATTCACTATGCTGGCACTGTGGACTACAACATTACTGGCTGGCTGGACAAAAAT c.1800
S L I H Y A G T V D Y N I T G W L D K N p.600
. . . . . . g.17635
AAGGACCCCCTGAATGATACTGTGGTTGGGCTGTACCAGAAGTCTGCAATGAAGACTCTA c.1860
K D P L N D T V V G L Y Q K S A M K T L p.620
. . . | 17. . . g.17809
GCCAGTCTCTTTTCCACGTATGCTAGTGCTGAAGCAG | ATAGCAGCGCGAAGAAAGGTGCT c.1920
A S L F S T Y A S A E A D | S S A K K G A p.640
. . . . | 18 . . g.19986
AAGAAAAAGGGCTCTTCTTTCCAGACTGTGTCTGCCCTTTTCAGG | GAAAATTTAAATAAA c.1980
K K K G S S F Q T V S A L F R | E N L N K p.660
. . . . . . g.20046
TTGATGACGAATCTGAGGAGCACACACCCTCACTTCGTACGGTGTATCATTCCCAATGAA c.2040
L M T N L R S T H P H F V R C I I P N E p.680
. | 19 . . . . . g.20190
ACCAAAACTCCTG | GGGCAATGGAACATGAACTTGTGTTGCACCAGCTGAGGTGTAATGGT c.2100
T K T P G | A M E H E L V L H Q L R C N G p.700
. . . . . . g.20250
GTGCTGGAAGGCATCCGCATCTGTAGGAAAGGATTCCCAAGCAGAATCTTATATGGTGAT c.2160
V L E G I R I C R K G F P S R I L Y G D p.720
. | 20 . . . . . g.20602
TTCAAACAAAG | ATACAAGGTTTTAAATGCAAGTGCTATTCCAGAGGGACAGTTCATTGAC c.2220
F K Q R | Y K V L N A S A I P E G Q F I D p.740
. . . . . . g.20662
AGCAAGAAGGCTTCTGAGAAACTTCTTGCATCTATTGATATTGATCATACTCAATATAAA c.2280
S K K A S E K L L A S I D I D H T Q Y K p.760
. | 21 . . . . . g.20818
TTTGGACATACCAAG | GTTTTCTTCAAAGCTGGACTTCTGGGTCTTCTGGAAGAAATGAGA c.2340
F G H T K | V F F K A G L L G L L E E M R p.780
. . . . . . g.20878
GATGAAAAATTAGCCCAAATTATAACAAGAACACAAGCTGTCTGTAGGGGATTCCTAATG c.2400
D E K L A Q I I T R T Q A V C R G F L M p.800
. . . | 22 . . . g.22393
AGGGTAGAATATCAGAAGATGTTGCAAAGGAG | AGAAGCACTTTTCTGCATCCAGTATAAT c.2460
R V E Y Q K M L Q R R | E A L F C I Q Y N p.820
. . . . . . g.22453
GTCCGTGCCTTCATGAACGTCAAGCACTGGCCCTGGATGAAACTCTTTTTCAAGATTAAG c.2520
V R A F M N V K H W P W M K L F F K I K p.840
. . . . . . g.22513
CCCCTCCTCAAGAGTGCAGAGACCGAGAAAGAGATGGCCACCATGAAGGAAGAATTCCAG c.2580
P L L K S A E T E K E M A T M K E E F Q p.860
. . . . . . g.22573
AAAACCAAAGATGAACTCGCCAAGTCAGAGGCAAAACGGAAGGAGCTAGAGGAAAAAATG c.2640
K T K D E L A K S E A K R K E L E E K M p.880
. . . . | 23 . g.25177
GTCACTCTCTTAAAAGAGAAAAATGACCTGCAACTCCAGGTTCAATCT | GAAGCAGATAGC c.2700
V T L L K E K N D L Q L Q V Q S | E A D S p.900
. . . . . . g.25237
TTGGCTGATGCAGAGGAAAGGTGTGAGCAACTGATTAAAAACAAAATCCAACTTGAGGCC c.2760
L A D A E E R C E Q L I K N K I Q L E A p.920
. . . . . . g.25297
AAAATCAAAGAGGTGACTGAAAGAGCTGAGGAGGAGGAAGAGATCAATGCTGAGCTGACA c.2820
K I K E V T E R A E E E E E I N A E L T p.940
. . . . . . g.25357
GCCAAGAAGAGAAAACTGGAGGATGAATGTTCAGAACTCAAGAAAGACATTGATGACCTT c.2880
A K K R K L E D E C S E L K K D I D D L p.960
. . . . . | 24 . g.25508
GAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACGGAGAACAAG | GTGAAAAAT c.2940
E L T L A K V E K E K H A T E N K | V K N p.980
. . . . . . g.25568
CTTACAGAAGAGATGGCAGGCCTGGATGAAACCATTGCAAAACTGTCCAAGGAGAAGAAG c.3000
L T E E M A G L D E T I A K L S K E K K p.1000
. . . . . . g.25628
GCTCTCCAAGAGACCCACCAGCAGACCCTGGATGACCTGCAGGCAGAGGAGGACAAAGTC c.3060
A L Q E T H Q Q T L D D L Q A E E D K V p.1020
. . . . | 25 . g.25771
AACATCCTGACCAAAGCTAAAACCAAGCTAGAACAGCAAGTGGATGAT | CTTGAAGGGTCT c.3120
N I L T K A K T K L E Q Q V D D | L E G S p.1040
. . . . . . g.25831
CTGGAACAAGAAAAGAAGCTTCGAATGGATCTAGAAAGAGCAAAGCGGAAACTGGAGGGT c.3180
L E Q E K K L R M D L E R A K R K L E G p.1060
. . . . . . g.25891
GACCTCAAATTGGCCCAAGAATCCACAATGGATATGGAAAATGACAAACAGCAACTTGAT c.3240
D L K L A Q E S T M D M E N D K Q Q L D p.1080
. | 26 . . . . . g.26037
GAAAAGCTTGAAAA | GAAAGAATTTGAAATCAGCAATTTGATAAGCAAAATTGAAGATGAG c.3300
E K L E K | K E F E I S N L I S K I E D E p.1100
. . . . | 27 . . g.26186
CAAGCTGTAGAAATTCAACTACAGAAGAAGATCAAAGAGTTGCAG | GCCCGCATTGAGGAG c.3360
Q A V E I Q L Q K K I K E L Q | A R I E E p.1120
. . . . . . g.26246
CTGGGGGAAGAAATCGAGGCAGAGAGGGCGTCCCGAGCCAAAGCGGAGAAGCAGCGCTCT c.3420
L G E E I E A E R A S R A K A E K Q R S p.1140
. . . . . . g.26306
GACCTCTCCCGGGAACTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCAACT c.3480
D L S R E L E E I S E R L E E A G G A T p.1160
. . . . . . g.26366
TCTGCTCAGGTGGAATTGAACAAGAAGCGGGAGGCTGAGTTTCAGAAACTGCGCAGGGAC c.3540
S A Q V E L N K K R E A E F Q K L R R D p.1180
. . . . . . g.26426
CTGGAGGAGGCCACCCTGCAGCATGAAGCTATGGTGGCTGCTCTTCGGAAGAAGCACGCA c.3600
L E E A T L Q H E A M V A A L R K K H A p.1200
. . . . . . g.26486
GACAGTATGGCTGAGCTTGGGGAGCAGATTGACAACTTGCAGCGGGTCAAACAGAAGCTG c.3660
D S M A E L G E Q I D N L Q R V K Q K L p.1220
. . . . . . g.26546
GAGAAGGAGAAGAGTGAGCTGAAGATGGAGACTGATGACCTCAGCAGTAACGCAGAGGCC c.3720
E K E K S E L K M E T D D L S S N A E A p.1240
. | 28 . . . . . g.27326
ATTTCCAAAGCCAAG | GGAAACCTTGAAAAGATGTGCCGCTCTCTAGAAGATCAAGTGAGT c.3780
I S K A K | G N L E K M C R S L E D Q V S p.1260
. . . . . . g.27386
GAGCTTAAGACCAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTCACAGCACAGAGA c.3840
E L K T K E E E Q Q R L I N D L T A Q R p.1280
. . | 29 . . . . g.28102
GCGCGCCTGCAGACAGAAGCGG | GTGAATATTCTCGACAATTAGATGAGAAAGATGCTTTA c.3900
A R L Q T E A G | E Y S R Q L D E K D A L p.1300
. . . . . . g.28162
GTCTCTCAGCTTTCAAGGAGCAAGCAAGCATCTACTCAGCAGATTGAAGAGCTGAAACAT c.3960
V S Q L S R S K Q A S T Q Q I E E L K H p.1320
. . | 30 . . . . g.28349
CAACTAGAGGAAGAAACTAAA | GCCAAGAACGCCCTGGCACACGCCCTGCAGTCCTCCCGC c.4020
Q L E E E T K | A K N A L A H A L Q S S R p.1340
. . . . . . g.28409
CATGACTGCGACCTGCTGCGGGAACAGTATGAGGAAGAGCAGGAAGGCAAAGCTGAGCTG c.4080
H D C D L L R E Q Y E E E Q E G K A E L p.1360
. . . . . . g.28469
CAGAGGGCGCTGTCCAAGGCCAACAGTGAGGTTGCCCAGTGGAGAACCAAATACGAGACG c.4140
Q R A L S K A N S E V A Q W R T K Y E T p.1380
. . . | 31 . . g.29986
GATGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAA | GAAAAAGTTGGCCCAGCGCCTG c.4200
D A I Q R T E E L E E A K | K K L A Q R L p.1400
. . . . . . g.30046
CAAGAAGCTGAGGAACATGTAGAAGCTGTGAACGCCAAATGTGCTTCCCTTGAGAAGACG c.4260
Q E A E E H V E A V N A K C A S L E K T p.1420
. . . . . . g.30106
AAGCAGCGGCTCCAGAATGAAGTTGAAGACCTCATGCTTGATGTGGAAAGGTCTAATGCA c.4320
K Q R L Q N E V E D L M L D V E R S N A p.1440
. . . . | 32 . . g.30250
GCCTGTGCAGCCCTTGATAAGAAGCAAAGGAACTTTGACAAG | GTCCTATCAGAATGGAAG c.4380
A C A A L D K K Q R N F D K | V L S E W K p.1460
. . . . . . g.30310
CAGAAGTATGAGGAAACTCAGGCTGAACTTGAGGCCTCCCAGAAGGAGTCACGTTCTCTT c.4440
Q K Y E E T Q A E L E A S Q K E S R S L p.1480
. . . . . . g.30370
AGCACTGAGCTGTTCAAGGTGAAGAATGTCTATGAGGAATCCCTGGATCAACTCGAAACG c.4500
S T E L F K V K N V Y E E S L D Q L E T p.1500
. . | 33 . . . g.30528
CTAAGAAGAGAAAATAAGAACTTGCAAC | AGGAGATTTCTGACCTCACTGAGCAGATTGCA c.4560
L R R E N K N L Q Q | E I S D L T E Q I A p.1520
. . . . . . g.30588
GAGGGAGGAAAGCAAATTCATGAATTGGAGAAAATAAAGAAGCAAGTAGAACAAGAGAAA c.4620
E G G K Q I H E L E K I K K Q V E Q E K p.1540
. . . | 34 . . . g.31536
TGTGAAATTCAGGCTGCTTTAGAGGAAGCAGAG | GCATCTCTTGAACATGAAGAAGGAAAG c.4680
C E I Q A A L E E A E | A S L E H E E G K p.1560
. . . . . . g.31596
ATTCTGCGTATCCAGCTTGAGTTAAACCAAGTCAAGTCTGAAGTTGATAGAAAAATCGCA c.4740
I L R I Q L E L N Q V K S E V D R K I A p.1580
. . . . . . g.31656
GAAAAGGATGAGGAAATTGACCAGCTGAAGAGAAACCACACTAGAGTCGTGGAGACAATG c.4800
E K D E E I D Q L K R N H T R V V E T M p.1600
. . . . . . g.31716
CAGAGCACGCTGGATGCAGAGATTAGAAGCAGAAATGATGCTCTGAGAGTCAAGAAGAAA c.4860
Q S T L D A E I R S R N D A L R V K K K p.1620
. . . . . . g.31776
ATGGAAGGAGATCTGAATGAAATGGAAATCCAGCTGAACCATGCCAATCGCTTAGCTGCA c.4920
M E G D L N E M E I Q L N H A N R L A A p.1640
. . . . | 35 . . g.32516
GAGAGTTTAAGGAACTACAGGAACACCCAAGGAATCCTGAAG | GAAACCCAGCTCCACCTG c.4980
E S L R N Y R N T Q G I L K | E T Q L H L p.1660
. . . . . . g.32576
GATGATGCTCTCCGGGGCCAGGAGGACCTCAAGGAACAGCTGGCAATTGTGGAGCGCAGA c.5040
D D A L R G Q E D L K E Q L A I V E R R p.1680
. . . . . . g.32636
GCCAACCTGCTGCAGGCTGAGATCGAGGAGCTGTGGGCCACTCTGGAACAGACAGAGAGA c.5100
A N L L Q A E I E E L W A T L E Q T E R p.1700
. . . . . . g.32696
AGCAGGAAAATCGCCGAACAGGAGCTCCTGGATGCCAGTGAGCGTGTCCAGCTCCTCCAC c.5160
S R K I A E Q E L L D A S E R V Q L L H p.1720
| 36 . . . . . . g.33794
ACCCAG | AATACCAGTCTCATTAACACCAAGAAGAAATTAGAAAATGACGTTTCCCAACTC c.5220
T Q | N T S L I N T K K K L E N D V S Q L p.1740
. . . . . . g.33854
CAAAGTGAAGTGGAAGAAGTAATCCAAGAATCACGCAATGCAGAAGAGAAAGCCAAGAAG c.5280
Q S E V E E V I Q E S R N A E E K A K K p.1760
. | 37 . . . . . g.33997
GCCATCACTGAT | GCTGCCATGATGGCTGAGGAGCTGAAGAAGGAACAGGACACCAGCGCC c.5340
A I T D | A A M M A E E L K K E Q D T S A p.1780
. . . . . . g.34057
CACCTGGAGCGGATGAAGAAGAACCTGGAGCAGACGGTGAAGGACCTGCAGCATCGTCTA c.5400
H L E R M K K N L E Q T V K D L Q H R L p.1800
. . . . . . g.34117
GATGAGGCCGAGCAGCTGGCGCTGAAGGGTGGGAAGAAGCAGATCCAGAAACTGGAGGCC c.5460
D E A E Q L A L K G G K K Q I Q K L E A p.1820
| 38 . . . . . . g.34361
AGG | GTACGTGAGCTTGAAGGAGAGGTTGAAAATGAACAGAAACGTAATGCAGAGGCTGTT c.5520
R | V R E L E G E V E N E Q K R N A E A V p.1840
. . . . | 39 . g.34985
AAAGGTTTACGGAAACATGAGCGACGAGTAAAAGAACTCACCTACCAG | ACTGAAGAAGAT c.5580
K G L R K H E R R V K E L T Y Q | T E E D p.1860
. . . . . . g.35045
CGCAAGAATGTTCTCAGGCTGCAGGACTTGGTAGATAAATTACAGGCGAAGGTGAAATCA c.5640
R K N V L R L Q D L V D K L Q A K V K S p.1880
. . | 40 . . . . g.36383
TACAAGAGACAAGCTGAGGAGGCT | GAGGAACAATCCAATGCTAATCTATCTAAATTCCGC c.5700
Y K R Q A E E A | E E Q S N A N L S K F R p.1900
. . . . . . g.36443
AAACTCCAGCATGAGCTGGAGGAGGCCGAGGAACGGGCTGACATTGCTGAGTCCCAGGTC c.5760
K L Q H E L E E A E E R A D I A E S Q V p.1920
. . . . . g.36497
AACAAATTGCGAGTGAAGAGCCGAGAGGTTCACACAAAAATCAGTGCAGAGTAA c.5814
N K L R V K S R E V H T K I S A E X p.1937
. . . . . . g.36557
acacacctgcctgatgctatcaagaggctgaagaaaggcacaaaatgtgctatttttggt c.*60
. . . . . . g.36617
cacttgctttatgacgtttattttcctgttaaagctgaataaataaaaactacagtaaat c.*120
g.36626
gtatacatt c.*129
(downstream sequence)
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