Canonical Allele Identifier: CA16042963

Linked Data

ClinVar Variation Id: 373404
ClinVar RCV Id: RCV000413618
dbSNP Id: rs1057518398

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10539927C>A , CM000679.2:g.10539927C>A GRCh38
NC_000017.10:g.10443244C>A , CM000679.1:g.10443244C>A GRCh37
NC_000017.9:g.10383969C>A NCBI36
NG_013014.1:g.14774G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.1147+1G>T (MYH2) MANE Select ENSP00000245503.5:n.1147+1G>T
ENST00000245503.9:c.1147+1G>T (MYH2) ENSP00000245503.5:n.1147+1G>T
ENST00000397183.6:c.1147+1G>T (MYH2) ENSP00000380367.2:n.1147+1G>T
ENST00000532183.6:c.1147+1G>T (MYH2) ENSP00000433944.1:n.1147+1G>T
ENST00000622564.4:c.1147+1G>T (MYH2) ENSP00000482463.1:n.1147+1G>T
NM_001100112.1:c.1147+1G>T (MYH2) NP_001093582.1:n.1147+1G>T
NM_017534.5:c.1147+1G>T (MYH2) NP_060004.3:n.1147+1G>T
NR_125367.1:n.168-27610C>A (MYHAS)
NM_017534.6:c.1147+1G>T (MYH2) MANE Select NP_060004.3:n.1147+1G>T
NM_001100112.2:c.1147+1G>T (MYH2) NP_001093582.1:n.1147+1G>T