Canonical Allele Identifier: CA1023856

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 1670329
• ClinVar RCV Id: RCV003089064
• dbSNP Id: rs752653901
• ExAC: 1:116275512 AGGT / A
• gnomAD v2: 1-116275512-AGGT-A
• gnomAD v3: 1-115732891-AGGT-A
• gnomAD v4: 1-115732891-AGGT-A
• MyVariant Identifiers: chr1:g.116275513_116275515del (hg19) ; chr1:g.115732892_115732894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732892_115732894del , CM000663.2:g.115732892_115732894del	GRCh38
NC_000001.10:g.116275513_116275515del , CM000663.1:g.116275513_116275515del	GRCh37
NC_000001.9:g.116077036_116077038del	NCBI36
NG_008802.1:g.40912_40914del , LRG_404:g.40912_40914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+7_330+9del	ENSP00000518226.1:n.330+7_330+9del
ENST00000261448.6:c.606+7_606+9del MANE Select	ENSP00000261448.5:n.606+7_606+9del
ENST00000261448.5:c.606+7_606+9del	ENSP00000261448.5:n.606+7_606+9del
ENST00000488931.1:n.27+7_27+9del
NM_001232.3:c.606+7_606+9del , LRG_404t1:c.606+7_606+9del	NP_001223.2:n.606+7_606+9del
NM_001232.4:c.606+7_606+9del MANE Select	NP_001223.2:n.606+7_606+9del