Canonical Allele Identifier: CA1023989
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 646041
ClinVar RCV Id: RCV000800247 RCV003166189 RCV003338807
dbSNP Id: rs761862949
ExAC: 1:116310958 G / C
gnomAD v2: 1-116310958-G-C
gnomAD v3: 1-115768337-G-C
gnomAD v4: 1-115768337-G-C
MyVariant Identifiers: chr1:g.116310958G>C (hg19) chr1:g.115768337G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768337G>C , CM000663.2:g.115768337G>C GRCh38
NC_000001.10:g.116310958G>C , CM000663.1:g.116310958G>C GRCh37
NC_000001.9:g.116112481G>C NCBI36
NG_008802.1:g.5469C>G , LRG_404:g.5469C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-72C>G ENSP00000518226.1:n.-72C>G
ENST00000261448.6:c.205C>G MANE Select ENSP00000261448.5:p.Gln69Glu
ENST00000261448.5:c.205C>G ENSP00000261448.5:p.Gln69Glu
NM_001232.3:c.205C>G , LRG_404t1:c.205C>G NP_001223.2:p.Gln69Glu
NM_001232.4:c.205C>G MANE Select NP_001223.2:p.Gln69Glu
Search 100 bp 5'
Search 100 bp 3'