Canonical Allele Identifier: CA1144247130
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768322C= , CM000663.2:g.115768322C= GRCh38
NC_000001.10:g.116310943C= , CM000663.1:g.116310943C= GRCh37
NC_000001.9:g.116112466C= NCBI36
NG_008802.1:g.5484G= , LRG_404:g.5484G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-57G= ENSP00000518226.1:n.-57G=
ENST00000261448.6:c.220G= MANE Select ENSP00000261448.5:p.Glu74=
ENST00000261448.5:c.220G= ENSP00000261448.5:p.Glu74=
NM_001232.3:c.220G= , LRG_404t1:c.220G= NP_001223.2:p.Glu74=
NM_001232.4:c.220G= MANE Select NP_001223.2:p.Glu74=