Canonical Allele Identifier: CA8390687

Gene: MYH2 MYHAS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10525842C>T , CM000679.2:g.10525842C>T	GRCh38
NC_000017.10:g.10429159C>T , CM000679.1:g.10429159C>T	GRCh37
NC_000017.9:g.10369884C>T	NCBI36
NG_013014.1:g.28859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.4222G>A (MYH2) MANE Select	ENSP00000245503.5:p.Glu1408Lys
ENST00000245503.9:c.4222G>A (MYH2)	ENSP00000245503.5:p.Glu1408Lys
ENST00000397183.6:c.4222G>A (MYH2)	ENSP00000380367.2:p.Glu1408Lys
ENST00000532183.6:c.1975-4410G>A (MYH2)	ENSP00000433944.1:n.1975-4410G>A
ENST00000622564.4:c.1975-4410G>A (MYH2)	ENSP00000482463.1:n.1975-4410G>A
NM_001100112.1:c.4222G>A (MYH2)	NP_001093582.1:p.Glu1408Lys
NM_017534.5:c.4222G>A (MYH2)	NP_060004.3:p.Glu1408Lys
NR_125367.1:n.168-41695C>T (MYHAS)
NM_017534.6:c.4222G>A (MYH2) MANE Select	NP_060004.3:p.Glu1408Lys
NM_001100112.2:c.4222G>A (MYH2)	NP_001093582.1:p.Glu1408Lys