Canonical Allele Identifier: CA1190726159
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731181T= , CM000663.2:g.115731181T= GRCh38
NC_000001.10:g.116273802T= , CM000663.1:g.116273802T= GRCh37
NC_000001.9:g.116075325T= NCBI36
NG_008802.1:g.42625A= , LRG_404:g.42625A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+933A= ENSP00000518226.1:n.425+933A=
ENST00000261448.6:c.606+1720A= MANE Select ENSP00000261448.5:n.606+1720A=
ENST00000261448.5:c.606+1720A= ENSP00000261448.5:n.606+1720A=
ENST00000488931.1:n.122+933A=
NM_001232.3:c.606+1720A= , LRG_404t1:c.606+1720A= NP_001223.2:n.606+1720A=
NM_001232.4:c.606+1720A= MANE Select NP_001223.2:n.606+1720A=