Canonical Allele Identifier: CA497977090

Linked Data

MyVariant Identifiers: chr17:g.10436634T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10533317T>G , CM000679.2:g.10533317T>G GRCh38
NC_000017.10:g.10436634T>G , CM000679.1:g.10436634T>G GRCh37
NC_000017.9:g.10377359T>G NCBI36
NG_013014.1:g.21384A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245503.10:c.2409A>C (MYH2) MANE Select ENSP00000245503.5:p.Ala803=
ENST00000245503.9:c.2409A>C (MYH2) ENSP00000245503.5:p.Ala803=
ENST00000397183.6:c.2409A>C (MYH2) ENSP00000380367.2:p.Ala803=
ENST00000532183.6:c.1974+3213A>C (MYH2) ENSP00000433944.1:n.1974+3213A>C
ENST00000622564.4:c.1974+3213A>C (MYH2) ENSP00000482463.1:n.1974+3213A>C
NM_001100112.1:c.2409A>C (MYH2) NP_001093582.1:p.Ala803=
NM_017534.5:c.2409A>C (MYH2) NP_060004.3:p.Ala803=
NR_125367.1:n.168-34220T>G (MYHAS)
NM_017534.6:c.2409A>C (MYH2) MANE Select NP_060004.3:p.Ala803=
NM_001100112.2:c.2409A>C (MYH2) NP_001093582.1:p.Ala803=