Canonical Allele Identifier: CA1023991
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2871512
ClinVar RCV Id: RCV003638246
dbSNP Id: rs766193771
ExAC: 1:116310983 C / G
gnomAD v2: 1-116310983-C-G
gnomAD v4: 1-115768362-C-G
MyVariant Identifiers: chr1:g.116310983C>G (hg19) chr1:g.115768362C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768362C>G , CM000663.2:g.115768362C>G GRCh38
NC_000001.10:g.116310983C>G , CM000663.1:g.116310983C>G GRCh37
NC_000001.9:g.116112506C>G NCBI36
NG_008802.1:g.5444G>C , LRG_404:g.5444G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-97G>C ENSP00000518226.1:n.-97G>C
ENST00000261448.6:c.180G>C MANE Select ENSP00000261448.5:p.Val60=
ENST00000261448.5:c.180G>C ENSP00000261448.5:p.Val60=
NM_001232.3:c.180G>C , LRG_404t1:c.180G>C NP_001223.2:p.Val60=
NM_001232.4:c.180G>C MANE Select NP_001223.2:p.Val60=
Search 100 bp 5'
Search 100 bp 3'