Canonical Allele Identifier: CA981429405

Gene: MYH2 MYHAS

Linked Data

• dbSNP Id: rs2073527948
• gnomAD v3: 17-10539688-C-T
• gnomAD v4: 17-10539688-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10539688C>T , CM000679.2:g.10539688C>T	GRCh38
NC_000017.10:g.10443005C>T , CM000679.1:g.10443005C>T	GRCh37
NC_000017.9:g.10383730C>T	NCBI36
NG_013014.1:g.15013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.1148-126G>A (MYH2) MANE Select	ENSP00000245503.5:n.1148-126G>A
ENST00000245503.9:c.1148-126G>A (MYH2)	ENSP00000245503.5:n.1148-126G>A
ENST00000397183.6:c.1148-126G>A (MYH2)	ENSP00000380367.2:n.1148-126G>A
ENST00000532183.6:c.1148-126G>A (MYH2)	ENSP00000433944.1:n.1148-126G>A
ENST00000622564.4:c.1148-126G>A (MYH2)	ENSP00000482463.1:n.1148-126G>A
NM_001100112.1:c.1148-126G>A (MYH2)	NP_001093582.1:n.1148-126G>A
NM_017534.5:c.1148-126G>A (MYH2)	NP_060004.3:n.1148-126G>A
NR_125367.1:n.168-27849C>T (MYHAS)
NM_017534.6:c.1148-126G>A (MYH2) MANE Select	NP_060004.3:n.1148-126G>A
NM_001100112.2:c.1148-126G>A (MYH2)	NP_001093582.1:n.1148-126G>A