Canonical Allele Identifier: CA2247283619

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10533317_10533318delinsTG , CM000679.2:g.10533317_10533318delinsTG GRCh38
NC_000017.10:g.10436634_10436635delinsTG , CM000679.1:g.10436634_10436635delinsTG GRCh37
NC_000017.9:g.10377359_10377360delinsTG NCBI36
NG_013014.1:g.21383_21384delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000245503.10:c.2408_2409delinsCA (MYH2) MANE Select ENSP00000245503.5:p.Ala803=
ENST00000245503.9:c.2408_2409delinsCA (MYH2) ENSP00000245503.5:p.Ala803=
ENST00000397183.6:c.2408_2409delinsCA (MYH2) ENSP00000380367.2:p.Ala803=
ENST00000532183.6:c.1974+3212_1974+3213delinsCA (MYH2) ENSP00000433944.1:n.1974+3212_1974+3213delinsCA
ENST00000622564.4:c.1974+3212_1974+3213delinsCA (MYH2) ENSP00000482463.1:n.1974+3212_1974+3213delinsCA
NM_001100112.1:c.2408_2409delinsCA (MYH2) NP_001093582.1:p.Ala803=
NM_017534.5:c.2408_2409delinsCA (MYH2) NP_060004.3:p.Ala803=
NR_125367.1:n.168-34220_168-34219delinsTG (MYHAS)
NM_017534.6:c.2408_2409delinsCA (MYH2) MANE Select NP_060004.3:p.Ala803=
NM_001100112.2:c.2408_2409delinsCA (MYH2) NP_001093582.1:p.Ala803=