Canonical Allele Identifier: CA1190715281
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115707897G= , CM000663.2:g.115707897G= GRCh38
NC_000001.10:g.116250518G= , CM000663.1:g.116250518G= GRCh37
NC_000001.9:g.116052041G= NCBI36
NG_008802.1:g.65909C= , LRG_404:g.65909C=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*211-2605C= ENSP00000518226.1:n.*211-2605C=
ENST00000261448.6:c.839-2605C= MANE Select ENSP00000261448.5:n.839-2605C=
ENST00000261448.5:c.839-2605C= ENSP00000261448.5:n.839-2605C=
NM_001232.3:c.839-2605C= , LRG_404t1:c.839-2605C= NP_001223.2:n.839-2605C=
NM_001232.4:c.839-2605C= MANE Select NP_001223.2:n.839-2605C=