Canonical Allele Identifier: CA1190726121
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731088G= , CM000663.2:g.115731088G= GRCh38
NC_000001.10:g.116273709G= , CM000663.1:g.116273709G= GRCh37
NC_000001.9:g.116075232G= NCBI36
NG_008802.1:g.42718C= , LRG_404:g.42718C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+1026C= ENSP00000518226.1:n.425+1026C=
ENST00000261448.6:c.606+1813C= MANE Select ENSP00000261448.5:n.606+1813C=
ENST00000261448.5:c.606+1813C= ENSP00000261448.5:n.606+1813C=
ENST00000488931.1:n.122+1026C=
NM_001232.3:c.606+1813C= , LRG_404t1:c.606+1813C= NP_001223.2:n.606+1813C=
NM_001232.4:c.606+1813C= MANE Select NP_001223.2:n.606+1813C=