Canonical Allele Identifier: CA2576172726

Gene: MYH2 MYHAS

Linked Data

• gnomAD v4: 17-10535070-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10535070G>A , CM000679.2:g.10535070G>A	GRCh38
NC_000017.10:g.10438387G>A , CM000679.1:g.10438387G>A	GRCh37
NC_000017.9:g.10379112G>A	NCBI36
NG_013014.1:g.19631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000245503.10:c.2180+3C>T (MYH2) MANE Select	ENSP00000245503.5:n.2180+3C>T
ENST00000245503.9:c.2180+3C>T (MYH2)	ENSP00000245503.5:n.2180+3C>T
ENST00000397183.6:c.2180+3C>T (MYH2)	ENSP00000380367.2:n.2180+3C>T
ENST00000532183.6:c.1974+1460C>T (MYH2)	ENSP00000433944.1:n.1974+1460C>T
ENST00000622564.4:c.1974+1460C>T (MYH2)	ENSP00000482463.1:n.1974+1460C>T
NM_001100112.1:c.2180+3C>T (MYH2)	NP_001093582.1:n.2180+3C>T
NM_017534.5:c.2180+3C>T (MYH2)	NP_060004.3:n.2180+3C>T
NR_125367.1:n.168-32467G>A (MYHAS)
NM_017534.6:c.2180+3C>T (MYH2) MANE Select	NP_060004.3:n.2180+3C>T
NM_001100112.2:c.2180+3C>T (MYH2)	NP_001093582.1:n.2180+3C>T