Canonical Allele Identifier: CA2647283135

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115732978-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732982del , CM000663.2:g.115732982del	GRCh38
NC_000001.10:g.116275603del , CM000663.1:g.116275603del	GRCh37
NC_000001.9:g.116077126del	NCBI36
NG_008802.1:g.40827del , LRG_404:g.40827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.257-5del	ENSP00000518226.1:n.257-5del
ENST00000261448.6:c.533-5del MANE Select	ENSP00000261448.5:n.533-5del
ENST00000261448.5:c.533-5del	ENSP00000261448.5:n.533-5del
NM_001232.3:c.533-5del , LRG_404t1:c.533-5del	NP_001223.2:n.533-5del
NM_001232.4:c.533-5del MANE Select	NP_001223.2:n.533-5del