Canonical Allele Identifier: CA2247283500
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI
gnomAD v4:
chr17-10533243-GT-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10533248del , CM000679.2:g.10533248del GRCh38
NC_000017.10:g.10436565del , CM000679.1:g.10436565del GRCh37
NC_000017.9:g.10377290del NCBI36
NG_013014.1:g.21457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245503.10:c.2441+41del (MYH2) MANE Select ENSP00000245503.5:n.2441+41del
ENST00000245503.9:c.2441+41del (MYH2) ENSP00000245503.5:n.2441+41del
ENST00000397183.6:c.2441+41del (MYH2) ENSP00000380367.2:n.2441+41del
ENST00000532183.6:c.1974+3286del (MYH2) ENSP00000433944.1:n.1974+3286del
ENST00000622564.4:c.1974+3286del (MYH2) ENSP00000482463.1:n.1974+3286del
NM_001100112.1:c.2441+41del (MYH2) NP_001093582.1:n.2441+41del
NM_017534.5:c.2441+41del (MYH2) NP_060004.3:n.2441+41del
NR_125367.1:n.168-34289del (MYHAS)
NM_017534.6:c.2441+41del (MYH2) MANE Select NP_060004.3:n.2441+41del
NM_001100112.2:c.2441+41del (MYH2) NP_001093582.1:n.2441+41del
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