Canonical Allele Identifier: CA2247302033
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

ClinVar Variation Id: 1997054
ClinVar RCV Id: RCV002807223
dbSNP Id: rs2073467379
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10535066A>C , CM000679.2:g.10535066A>C GRCh38
NC_000017.10:g.10438383A>C , CM000679.1:g.10438383A>C GRCh37
NC_000017.9:g.10379108A>C NCBI36
NG_013014.1:g.19635T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.2180+7T>G (MYH2) MANE Select ENSP00000245503.5:n.2180+7T>G
ENST00000245503.9:c.2180+7T>G (MYH2) ENSP00000245503.5:n.2180+7T>G
ENST00000397183.6:c.2180+7T>G (MYH2) ENSP00000380367.2:n.2180+7T>G
ENST00000532183.6:c.1974+1464T>G (MYH2) ENSP00000433944.1:n.1974+1464T>G
ENST00000622564.4:c.1974+1464T>G (MYH2) ENSP00000482463.1:n.1974+1464T>G
NM_001100112.1:c.2180+7T>G (MYH2) NP_001093582.1:n.2180+7T>G
NM_017534.5:c.2180+7T>G (MYH2) NP_060004.3:n.2180+7T>G
NR_125367.1:n.168-32471A>C (MYHAS)
NM_017534.6:c.2180+7T>G (MYH2) MANE Select NP_060004.3:n.2180+7T>G
NM_001100112.2:c.2180+7T>G (MYH2) NP_001093582.1:n.2180+7T>G
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