Canonical Allele Identifier: CA282349
Gene: CASQ2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'