Canonical Allele Identifier: CA2247283488

Gene: MYH2 MYHAS

Linked Data

• dbSNP Id: rs2073444214
• gnomAD v4: 17-10533207-ATAAGCTGAGTCTTAACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10533213_10533230del , CM000679.2:g.10533213_10533230del	GRCh38
NC_000017.10:g.10436530_10436547del , CM000679.1:g.10436530_10436547del	GRCh37
NC_000017.9:g.10377255_10377272del	NCBI36
NG_013014.1:g.21476_21493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.2441+60_2441+77del (MYH2) MANE Select	ENSP00000245503.5:n.2441+60_2441+77del
ENST00000245503.9:c.2441+60_2441+77del (MYH2)	ENSP00000245503.5:n.2441+60_2441+77del
ENST00000397183.6:c.2441+60_2441+77del (MYH2)	ENSP00000380367.2:n.2441+60_2441+77del
ENST00000532183.6:c.1974+3305_1974+3322del (MYH2)	ENSP00000433944.1:n.1974+3305_1974+3322del
ENST00000622564.4:c.1974+3305_1974+3322del (MYH2)	ENSP00000482463.1:n.1974+3305_1974+3322del
NM_001100112.1:c.2441+60_2441+77del (MYH2)	NP_001093582.1:n.2441+60_2441+77del
NM_017534.5:c.2441+60_2441+77del (MYH2)	NP_060004.3:n.2441+60_2441+77del
NR_125367.1:n.168-34324_168-34307del (MYHAS)
NM_017534.6:c.2441+60_2441+77del (MYH2) MANE Select	NP_060004.3:n.2441+60_2441+77del
NM_001100112.2:c.2441+60_2441+77del (MYH2)	NP_001093582.1:n.2441+60_2441+77del