Canonical Allele Identifier: CA282346
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44161
ClinVar RCV Id: RCV000037137 RCV000585900 RCV000768706 RCV001093917 RCV002513466
dbSNP Id: rs74114618
ExAC: 1:116310965 C / T
gnomAD v2: 1-116310965-C-T
gnomAD v3: 1-115768344-C-T
gnomAD v4: 1-115768344-C-T
COSMIC: COSM3975924
MyVariant Identifiers: chr1:g.116310965C>T (hg19) chr1:g.115768344C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768344C>T , CM000663.2:g.115768344C>T GRCh38
NC_000001.10:g.116310965C>T , CM000663.1:g.116310965C>T GRCh37
NC_000001.9:g.116112488C>T NCBI36
NG_008802.1:g.5462G>A , LRG_404:g.5462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-79G>A ENSP00000518226.1:n.-79G>A
ENST00000261448.6:c.198G>A MANE Select ENSP00000261448.5:p.Thr66=
ENST00000261448.5:c.198G>A ENSP00000261448.5:p.Thr66=
NM_001232.3:c.198G>A , LRG_404t1:c.198G>A NP_001223.2:p.Thr66=
NM_001232.4:c.198G>A MANE Select NP_001223.2:p.Thr66=
Search 100 bp 5'
Search 100 bp 3'