Canonical Allele Identifier: CA8390466

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10523910A>T , CM000679.2:g.10523910A>T GRCh38
NC_000017.10:g.10427227A>T , CM000679.1:g.10427227A>T GRCh37
NC_000017.9:g.10367952A>T NCBI36
NG_013014.1:g.30791T>A

Transcript Alleles

HGVS Amino-acid Change
NM_017534.6:c.5176-26T>A (MYH2) MANE Select NP_060004.3:n.5176-26T>A
ENST00000245503.10:c.5176-26T>A (MYH2) MANE Select ENSP00000245503.5:n.5176-26T>A
NM_001100112.1:c.5176-26T>A (MYH2) NP_001093582.1:n.5176-26T>A
NM_001100112.2:c.5176-26T>A (MYH2) NP_001093582.1:n.5176-26T>A
NM_017534.5:c.5176-26T>A (MYH2) NP_060004.3:n.5176-26T>A
NR_125367.1:n.168-43627A>T (MYHAS)
ENST00000245503.9:c.5176-26T>A (MYH2) ENSP00000245503.5:n.5176-26T>A
ENST00000397183.6:c.5176-26T>A (MYH2) ENSP00000380367.2:n.5176-26T>A
ENST00000532183.6:c.1975-2478T>A (MYH2) ENSP00000433944.1:n.1975-2478T>A
ENST00000622564.4:c.1975-2478T>A (MYH2) ENSP00000482463.1:n.1975-2478T>A