Canonical Allele Identifier: CA398163430

Gene: MYH2 MYHAS

Linked Data

• MyVariant Identifiers: chr17:g.10443353C>A (hg19) ; chr17:g.10540036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10540036C>A , CM000679.2:g.10540036C>A	GRCh38
NC_000017.10:g.10443353C>A , CM000679.1:g.10443353C>A	GRCh37
NC_000017.9:g.10384078C>A	NCBI36
NG_013014.1:g.14665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.1039G>T (MYH2) MANE Select	ENSP00000245503.5:p.Glu347Ter
ENST00000245503.9:c.1039G>T (MYH2)	ENSP00000245503.5:p.Glu347Ter
ENST00000397183.6:c.1039G>T (MYH2)	ENSP00000380367.2:p.Glu347Ter
ENST00000532183.6:c.1039G>T (MYH2)	ENSP00000433944.1:p.Glu347Ter
ENST00000622564.4:c.1039G>T (MYH2)	ENSP00000482463.1:p.Glu347Ter
NM_001100112.1:c.1039G>T (MYH2)	NP_001093582.1:p.Glu347Ter
NM_017534.5:c.1039G>T (MYH2)	NP_060004.3:p.Glu347Ter
NR_125367.1:n.168-27501C>A (MYHAS)
NM_017534.6:c.1039G>T (MYH2) MANE Select	NP_060004.3:p.Glu347Ter
NM_001100112.2:c.1039G>T (MYH2)	NP_001093582.1:p.Glu347Ter