Canonical Allele Identifier: CA725941771

Gene: MYH2 MYHAS

Linked Data

• dbSNP Id: rs1407362282
• gnomAD v3: 17-10533317-TG-T
• gnomAD v4: 17-10533317-TG-T
• MyVariant Identifiers: chr17:g.10436635del (hg19) ; chr17:g.10533318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10533318del , CM000679.2:g.10533318del	GRCh38
NC_000017.10:g.10436635del , CM000679.1:g.10436635del	GRCh37
NC_000017.9:g.10377360del	NCBI36
NG_013014.1:g.21383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.2408del (MYH2) MANE Select	ENSP00000245503.5:p.Ala803GlufsTer26
ENST00000245503.9:c.2408del (MYH2)	ENSP00000245503.5:p.Ala803GlufsTer26
ENST00000397183.6:c.2408del (MYH2)	ENSP00000380367.2:p.Ala803GlufsTer26
ENST00000532183.6:c.1974+3212del (MYH2)	ENSP00000433944.1:n.1974+3212del
ENST00000622564.4:c.1974+3212del (MYH2)	ENSP00000482463.1:n.1974+3212del
NM_001100112.1:c.2408del (MYH2)	NP_001093582.1:p.Ala803GlufsTer26
NM_017534.5:c.2408del (MYH2)	NP_060004.3:p.Ala803GlufsTer26
NR_125367.1:n.168-34219del (MYHAS)
NM_017534.6:c.2408del (MYH2) MANE Select	NP_060004.3:p.Ala803GlufsTer26
NM_001100112.2:c.2408del (MYH2)	NP_001093582.1:p.Ala803GlufsTer26