Canonical Allele Identifier: CA1190726126

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115731096_115731097delinsGT , CM000663.2:g.115731096_115731097delinsGT	GRCh38
NC_000001.10:g.116273717_116273718delinsGT , CM000663.1:g.116273717_116273718delinsGT	GRCh37
NC_000001.9:g.116075240_116075241delinsGT	NCBI36
NG_008802.1:g.42709_42710delinsAC , LRG_404:g.42709_42710delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.425+1017_425+1018delinsAC	ENSP00000518226.1:n.425+1017_425+1018deli...
ENST00000261448.6:c.606+1804_606+1805delinsAC MANE Select	ENSP00000261448.5:n.606+1804_606+1805deli...
ENST00000261448.5:c.606+1804_606+1805delinsAC	ENSP00000261448.5:n.606+1804_606+1805deli...
ENST00000488931.1:n.122+1017_122+1018delinsAC
NM_001232.3:c.606+1804_606+1805delinsAC , LRG_404t1:c.606+1804_606+1805delinsAC	NP_001223.2:n.606+1804_606+1805delinsAC
NM_001232.4:c.606+1804_606+1805delinsAC MANE Select	NP_001223.2:n.606+1804_606+1805delinsAC