Canonical Allele Identifier: CA1190726907

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732891_115732894delinsAGGT , CM000663.2:g.115732891_115732894delinsAGGT	GRCh38
NC_000001.10:g.116275512_116275515delinsAGGT , CM000663.1:g.116275512_116275515delinsAGGT	GRCh37
NC_000001.9:g.116077035_116077038delinsAGGT	NCBI36
NG_008802.1:g.40912_40915delinsACCT , LRG_404:g.40912_40915delinsACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+7_330+10delinsACCT	ENSP00000518226.1:n.330+7_330+10delinsACC...
ENST00000261448.6:c.606+7_606+10delinsACCT MANE Select	ENSP00000261448.5:n.606+7_606+10delinsACC...
ENST00000261448.5:c.606+7_606+10delinsACCT	ENSP00000261448.5:n.606+7_606+10delinsACC...
ENST00000488931.1:n.27+7_27+10delinsACCT
NM_001232.3:c.606+7_606+10delinsACCT , LRG_404t1:c.606+7_606+10delinsACCT	NP_001223.2:n.606+7_606+10delinsACCT
NM_001232.4:c.606+7_606+10delinsACCT MANE Select	NP_001223.2:n.606+7_606+10delinsACCT