Canonical Allele Identifier: CA1142410032
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768384C= , CM000663.2:g.115768384C= GRCh38
NC_000001.10:g.116311005C= , CM000663.1:g.116311005C= GRCh37
NC_000001.9:g.116112528C= NCBI36
NG_008802.1:g.5422G= , LRG_404:g.5422G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-119G= ENSP00000518226.1:n.-119G=
ENST00000261448.6:c.158G= MANE Select ENSP00000261448.5:p.Cys53=
ENST00000261448.5:c.158G= ENSP00000261448.5:p.Cys53=
NM_001232.3:c.158G= , LRG_404t1:c.158G= NP_001223.2:p.Cys53=
NM_001232.4:c.158G= MANE Select NP_001223.2:p.Cys53=