Canonical Allele Identifier: CA301891

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 190740
• ClinVar RCV Id: RCV000170886 ; RCV003338437 ; RCV002336398 ; RCV002515228
• dbSNP Id: rs146333579
• ExAC: 1:116280896 T / G
• gnomAD v2: 1-116280896-T-G
• gnomAD v3: 1-115738275-T-G
• gnomAD v4: 1-115738275-T-G
• MyVariant Identifiers: chr1:g.116280896T>G (hg19) ; chr1:g.115738275T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.205A>C	ENSP00000518226.1:p.Ile69Leu
ENST00000261448.6:c.481A>C MANE Select	ENSP00000261448.5:p.Ile161Leu
ENST00000261448.5:c.481A>C	ENSP00000261448.5:p.Ile161Leu
NM_001232.3:c.481A>C , LRG_404t1:c.481A>C	NP_001223.2:p.Ile161Leu
NM_001232.4:c.481A>C MANE Select	NP_001223.2:p.Ile161Leu