Canonical Allele Identifier: CA8390798

Gene: MYH2 MYHAS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10527799G>A , CM000679.2:g.10527799G>A	GRCh38
NC_000017.10:g.10431116G>A , CM000679.1:g.10431116G>A	GRCh37
NC_000017.9:g.10371841G>A	NCBI36
NG_013014.1:g.26902C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017534.6:c.3820C>T (MYH2) MANE Select	NP_060004.3:p.Arg1274Trp
ENST00000245503.10:c.3820C>T (MYH2) MANE Select	ENSP00000245503.5:p.Arg1274Trp
NM_001100112.1:c.3820C>T (MYH2)	NP_001093582.1:p.Arg1274Trp
NM_001100112.2:c.3820C>T (MYH2)	NP_001093582.1:p.Arg1274Trp
NM_017534.5:c.3820C>T (MYH2)	NP_060004.3:p.Arg1274Trp
NR_125367.1:n.168-39738G>A (MYHAS)
ENST00000245503.9:c.3820C>T (MYH2)	ENSP00000245503.5:p.Arg1274Trp
ENST00000397183.6:c.3820C>T (MYH2)	ENSP00000380367.2:p.Arg1274Trp
ENST00000532183.6:c.1975-6367C>T (MYH2)	ENSP00000433944.1:n.1975-6367C>T
ENST00000622564.4:c.1975-6367C>T (MYH2)	ENSP00000482463.1:n.1975-6367C>T