Canonical Allele Identifier: CA29625150
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1449647
ClinVar RCV Id: RCV002564348
dbSNP Id: rs376824588
gnomAD v2: 1-116310991-C-T
gnomAD v3: 1-115768370-C-T
gnomAD v4: 1-115768370-C-T
MyVariant Identifiers: chr1:g.116310991C>T (hg19) chr1:g.115768370C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768370C>T , CM000663.2:g.115768370C>T GRCh38
NC_000001.10:g.116310991C>T , CM000663.1:g.116310991C>T GRCh37
NC_000001.9:g.116112514C>T NCBI36
NG_008802.1:g.5436G>A , LRG_404:g.5436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-105G>A ENSP00000518226.1:n.-105G>A
ENST00000261448.6:c.172G>A MANE Select ENSP00000261448.5:p.Glu58Lys
ENST00000261448.5:c.172G>A ENSP00000261448.5:p.Glu58Lys
NM_001232.3:c.172G>A , LRG_404t1:c.172G>A NP_001223.2:p.Glu58Lys
NM_001232.4:c.172G>A MANE Select NP_001223.2:p.Glu58Lys
Search 100 bp 5'
Search 100 bp 3'