Canonical Allele Identifier: CA1023851

Gene: CASQ2

Linked Data

• dbSNP Id: rs767418776
• ExAC: 1:116275491 CTG / C
• gnomAD v2: 1-116275491-CTG-C
• gnomAD v4: 1-115732870-CTG-C
• MyVariant Identifiers: chr1:g.116275492_116275493del (hg19) ; chr1:g.115732871_115732872del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732872_115732873del , CM000663.2:g.115732872_115732873del	GRCh38
NC_000001.10:g.116275493_116275494del , CM000663.1:g.116275493_116275494del	GRCh37
NC_000001.9:g.116077016_116077017del	NCBI36
NG_008802.1:g.40934_40935del , LRG_404:g.40934_40935del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+29_330+30del	ENSP00000518226.1:n.330+29_330+30del
ENST00000261448.6:c.606+29_606+30del MANE Select	ENSP00000261448.5:n.606+29_606+30del
ENST00000261448.5:c.606+29_606+30del	ENSP00000261448.5:n.606+29_606+30del
ENST00000488931.1:n.27+29_27+30del
NM_001232.3:c.606+29_606+30del , LRG_404t1:c.606+29_606+30del	NP_001223.2:n.606+29_606+30del
NM_001232.4:c.606+29_606+30del MANE Select	NP_001223.2:n.606+29_606+30del