Canonical Allele Identifier: CA341767022
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806492
ClinVar RCV Id: RCV003639646
dbSNP Id: rs761862949
MyVariant Identifiers: chr1:g.116310958G>A (hg19) chr1:g.115768337G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-72C>T ENSP00000518226.1:n.-72C>T
ENST00000261448.6:c.205C>T MANE Select ENSP00000261448.5:p.Gln69Ter
ENST00000261448.5:c.205C>T ENSP00000261448.5:p.Gln69Ter
NM_001232.3:c.205C>T , LRG_404t1:c.205C>T NP_001223.2:p.Gln69Ter
NM_001232.4:c.205C>T MANE Select NP_001223.2:p.Gln69Ter
Search 100 bp 5'
Search 100 bp 3'