Canonical Allele Identifier: CA885950334

Gene: CASQ2

Linked Data

• dbSNP Id: rs1458823468
• gnomAD v3: 1-115738042-CCTGA-C
• gnomAD v4: 1-115738042-CCTGA-C
• MyVariant Identifiers: chr1:g.116280664_116280667del (hg19) ; chr1:g.115738043_115738046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738046_115738049del , CM000663.2:g.115738046_115738049del	GRCh38
NC_000001.10:g.116280667_116280670del , CM000663.1:g.116280667_116280670del	GRCh37
NC_000001.9:g.116082190_116082193del	NCBI36
NG_008802.1:g.35760_35763del , LRG_404:g.35760_35763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.256+178_256+181del	ENSP00000518226.1:n.256+178_256+181del
ENST00000261448.6:c.532+178_532+181del MANE Select	ENSP00000261448.5:n.532+178_532+181del
ENST00000261448.5:c.532+178_532+181del	ENSP00000261448.5:n.532+178_532+181del
NM_001232.3:c.532+178_532+181del , LRG_404t1:c.532+178_532+181del	NP_001223.2:n.532+178_532+181del
NM_001232.4:c.532+178_532+181del MANE Select	NP_001223.2:n.532+178_532+181del