Canonical Allele Identifier: CA282349

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 44162
• ClinVar RCV Id: RCV000037138 ; RCV000253496 ; RCV000625056 ; RCV000768705 ; RCV002513467
• dbSNP Id: rs10801999
• ExAC: 1:116310937 C / T
• gnomAD v2: 1-116310937-C-T
• gnomAD v3: 1-115768316-C-T
• gnomAD v4: 1-115768316-C-T
• MyVariant Identifiers: chr1:g.116310937C>T (hg19) ; chr1:g.115768316C>T (hg38)
• PubMed: PMID:19709828 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768316C>T , CM000663.2:g.115768316C>T	GRCh38
NC_000001.10:g.116310937C>T , CM000663.1:g.116310937C>T	GRCh37
NC_000001.9:g.116112460C>T	NCBI36
NG_008802.1:g.5490G>A , LRG_404:g.5490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-51G>A	ENSP00000518226.1:n.-51G>A
ENST00000261448.6:c.226G>A MANE Select	ENSP00000261448.5:p.Val76Met
ENST00000261448.5:c.226G>A	ENSP00000261448.5:p.Val76Met
NM_001232.3:c.226G>A , LRG_404t1:c.226G>A	NP_001223.2:p.Val76Met
NM_001232.4:c.226G>A MANE Select	NP_001223.2:p.Val76Met