Canonical Allele Identifier: CA133706

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 44167
• ClinVar RCV Id: RCV000037143 ; RCV000244068 ; RCV001719739 ; RCV003103723
• dbSNP Id: rs146333579
• ExAC: 1:116280896 T / C
• gnomAD v2: 1-116280896-T-C
• gnomAD v3: 1-115738275-T-C
• gnomAD v4: 1-115738275-T-C
• MyVariant Identifiers: chr1:g.116280896T>C (hg19) ; chr1:g.115738275T>C (hg38)
• PubMed: PMID:28404607

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738275T>C , CM000663.2:g.115738275T>C	GRCh38
NC_000001.10:g.116280896T>C , CM000663.1:g.116280896T>C	GRCh37
NC_000001.9:g.116082419T>C	NCBI36
NG_008802.1:g.35531A>G , LRG_404:g.35531A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.205A>G	ENSP00000518226.1:p.Ile69Val
ENST00000261448.6:c.481A>G MANE Select	ENSP00000261448.5:p.Ile161Val
ENST00000261448.5:c.481A>G	ENSP00000261448.5:p.Ile161Val
NM_001232.3:c.481A>G , LRG_404t1:c.481A>G	NP_001223.2:p.Ile161Val
NM_001232.4:c.481A>G MANE Select	NP_001223.2:p.Ile161Val