Canonical Allele Identifier: CA2636119624

Gene: MYH2 MYHAS

Linked Data

• gnomAD v4: 17-10539840-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10539840T>G , CM000679.2:g.10539840T>G	GRCh38
NC_000017.10:g.10443157T>G , CM000679.1:g.10443157T>G	GRCh37
NC_000017.9:g.10383882T>G	NCBI36
NG_013014.1:g.14861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.1147+88A>C (MYH2) MANE Select	ENSP00000245503.5:n.1147+88A>C
ENST00000245503.9:c.1147+88A>C (MYH2)	ENSP00000245503.5:n.1147+88A>C
ENST00000397183.6:c.1147+88A>C (MYH2)	ENSP00000380367.2:n.1147+88A>C
ENST00000532183.6:c.1147+88A>C (MYH2)	ENSP00000433944.1:n.1147+88A>C
ENST00000622564.4:c.1147+88A>C (MYH2)	ENSP00000482463.1:n.1147+88A>C
NM_001100112.1:c.1147+88A>C (MYH2)	NP_001093582.1:n.1147+88A>C
NM_017534.5:c.1147+88A>C (MYH2)	NP_060004.3:n.1147+88A>C
NR_125367.1:n.168-27697T>G (MYHAS)
NM_017534.6:c.1147+88A>C (MYH2) MANE Select	NP_060004.3:n.1147+88A>C
NM_001100112.2:c.1147+88A>C (MYH2)	NP_001093582.1:n.1147+88A>C