Canonical Allele Identifier: CA2247301998

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10535041T= , CM000679.2:g.10535041T= GRCh38
NC_000017.10:g.10438358T= , CM000679.1:g.10438358T= GRCh37
NC_000017.9:g.10379083T= NCBI36
NG_013014.1:g.19660A=

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.2180+32A= (MYH2) MANE Select ENSP00000245503.5:n.2180+32A=
ENST00000245503.9:c.2180+32A= (MYH2) ENSP00000245503.5:n.2180+32A=
ENST00000397183.6:c.2180+32A= (MYH2) ENSP00000380367.2:n.2180+32A=
ENST00000532183.6:c.1974+1489A= (MYH2) ENSP00000433944.1:n.1974+1489A=
ENST00000622564.4:c.1974+1489A= (MYH2) ENSP00000482463.1:n.1974+1489A=
NM_001100112.1:c.2180+32A= (MYH2) NP_001093582.1:n.2180+32A=
NM_017534.5:c.2180+32A= (MYH2) NP_060004.3:n.2180+32A=
NR_125367.1:n.168-32496T= (MYHAS)
NM_017534.6:c.2180+32A= (MYH2) MANE Select NP_060004.3:n.2180+32A=
NM_001100112.2:c.2180+32A= (MYH2) NP_001093582.1:n.2180+32A=