Canonical Allele Identifier: CA2636107925
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

gnomAD v4: 17-10533250-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10533250_10533251insC , CM000679.2:g.10533250_10533251insC GRCh38
NC_000017.10:g.10436567_10436568insC , CM000679.1:g.10436567_10436568insC GRCh37
NC_000017.9:g.10377292_10377293insC NCBI36
NG_013014.1:g.21450_21451insG

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.2441+34_2441+35insG (MYH2) MANE Select ENSP00000245503.5:n.2441+34_2441+35insG
ENST00000245503.9:c.2441+34_2441+35insG (MYH2) ENSP00000245503.5:n.2441+34_2441+35insG
ENST00000397183.6:c.2441+34_2441+35insG (MYH2) ENSP00000380367.2:n.2441+34_2441+35insG
ENST00000532183.6:c.1974+3279_1974+3280insG (MYH2) ENSP00000433944.1:n.1974+3279_1974+3280in...
ENST00000622564.4:c.1974+3279_1974+3280insG (MYH2) ENSP00000482463.1:n.1974+3279_1974+3280in...
NM_001100112.1:c.2441+34_2441+35insG (MYH2) NP_001093582.1:n.2441+34_2441+35insG
NM_017534.5:c.2441+34_2441+35insG (MYH2) NP_060004.3:n.2441+34_2441+35insG
NR_125367.1:n.168-34287_168-34286insC (MYHAS)
NM_017534.6:c.2441+34_2441+35insG (MYH2) MANE Select NP_060004.3:n.2441+34_2441+35insG
NM_001100112.2:c.2441+34_2441+35insG (MYH2) NP_001093582.1:n.2441+34_2441+35insG
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