Canonical Allele Identifier: CA8391201

Gene: MYH2 MYHAS

Linked Data

• dbSNP Id: rs779155802
• ExAC: 17:10438361 A / G
• gnomAD v2: 17-10438361-A-G
• MyVariant Identifiers: chr17:g.10438361A>G (hg19) ; chr17:g.10535044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10535044A>G , CM000679.2:g.10535044A>G	GRCh38
NC_000017.10:g.10438361A>G , CM000679.1:g.10438361A>G	GRCh37
NC_000017.9:g.10379086A>G	NCBI36
NG_013014.1:g.19657T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000245503.10:c.2180+29T>C (MYH2) MANE Select	ENSP00000245503.5:n.2180+29T>C
ENST00000245503.9:c.2180+29T>C (MYH2)	ENSP00000245503.5:n.2180+29T>C
ENST00000397183.6:c.2180+29T>C (MYH2)	ENSP00000380367.2:n.2180+29T>C
ENST00000532183.6:c.1974+1486T>C (MYH2)	ENSP00000433944.1:n.1974+1486T>C
ENST00000622564.4:c.1974+1486T>C (MYH2)	ENSP00000482463.1:n.1974+1486T>C
NM_001100112.1:c.2180+29T>C (MYH2)	NP_001093582.1:n.2180+29T>C
NM_017534.5:c.2180+29T>C (MYH2)	NP_060004.3:n.2180+29T>C
NR_125367.1:n.168-32493A>G (MYHAS)
NM_017534.6:c.2180+29T>C (MYH2) MANE Select	NP_060004.3:n.2180+29T>C
NM_001100112.2:c.2180+29T>C (MYH2)	NP_001093582.1:n.2180+29T>C