Canonical Allele Identifier: CA1190726143
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731142C= , CM000663.2:g.115731142C= GRCh38
NC_000001.10:g.116273763C= , CM000663.1:g.116273763C= GRCh37
NC_000001.9:g.116075286C= NCBI36
NG_008802.1:g.42664G= , LRG_404:g.42664G=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.425+972G= ENSP00000518226.1:n.425+972G=
ENST00000261448.6:c.606+1759G= MANE Select ENSP00000261448.5:n.606+1759G=
ENST00000261448.5:c.606+1759G= ENSP00000261448.5:n.606+1759G=
ENST00000488931.1:n.122+972G=
NM_001232.3:c.606+1759G= , LRG_404t1:c.606+1759G= NP_001223.2:n.606+1759G=
NM_001232.4:c.606+1759G= MANE Select NP_001223.2:n.606+1759G=