Canonical Allele Identifier: CA123753
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

ClinVar Variation Id: 14137
ClinVar RCV Id: RCV000015199
dbSNP Id: rs121434589
MyVariant Identifiers: chr17:g.10438454C>T (hg19) chr17:g.10535137C>T (hg38)
PubMed: PMID:11114175 PMID:11889243 PMID:16130113
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10535137C>T , CM000679.2:g.10535137C>T GRCh38
NC_000017.10:g.10438454C>T , CM000679.1:g.10438454C>T GRCh37
NC_000017.9:g.10379179C>T NCBI36
NG_013014.1:g.19564G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.2116G>A (MYH2) MANE Select ENSP00000245503.5:p.Glu706Lys
ENST00000245503.9:c.2116G>A (MYH2) ENSP00000245503.5:p.Glu706Lys
ENST00000397183.6:c.2116G>A (MYH2) ENSP00000380367.2:p.Glu706Lys
ENST00000532183.6:c.1974+1393G>A (MYH2) ENSP00000433944.1:n.1974+1393G>A
ENST00000622564.4:c.1974+1393G>A (MYH2) ENSP00000482463.1:n.1974+1393G>A
NM_001100112.1:c.2116G>A (MYH2) NP_001093582.1:p.Glu706Lys
NM_017534.5:c.2116G>A (MYH2) NP_060004.3:p.Glu706Lys
NR_125367.1:n.168-32400C>T (MYHAS)
NM_017534.6:c.2116G>A (MYH2) MANE Select NP_060004.3:p.Glu706Lys
NM_001100112.2:c.2116G>A (MYH2) NP_001093582.1:p.Glu706Lys
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