Canonical Allele Identifier: CA2636107931
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

gnomAD v4: 17-10533257-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10533257A>C , CM000679.2:g.10533257A>C GRCh38
NC_000017.10:g.10436574A>C , CM000679.1:g.10436574A>C GRCh37
NC_000017.9:g.10377299A>C NCBI36
NG_013014.1:g.21444T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.2441+28T>G (MYH2) MANE Select ENSP00000245503.5:n.2441+28T>G
ENST00000245503.9:c.2441+28T>G (MYH2) ENSP00000245503.5:n.2441+28T>G
ENST00000397183.6:c.2441+28T>G (MYH2) ENSP00000380367.2:n.2441+28T>G
ENST00000532183.6:c.1974+3273T>G (MYH2) ENSP00000433944.1:n.1974+3273T>G
ENST00000622564.4:c.1974+3273T>G (MYH2) ENSP00000482463.1:n.1974+3273T>G
NM_001100112.1:c.2441+28T>G (MYH2) NP_001093582.1:n.2441+28T>G
NM_017534.5:c.2441+28T>G (MYH2) NP_060004.3:n.2441+28T>G
NR_125367.1:n.168-34280A>C (MYHAS)
NM_017534.6:c.2441+28T>G (MYH2) MANE Select NP_060004.3:n.2441+28T>G
NM_001100112.2:c.2441+28T>G (MYH2) NP_001093582.1:n.2441+28T>G
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