Canonical Allele Identifier: CA341763897
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3221461
ClinVar RCV Id: RCV004508312
dbSNP Id: rs750680032
gnomAD v2: 1-116280899-G-T
gnomAD v4: 1-115738278-G-T
MyVariant Identifiers: chr1:g.116280899G>T (hg19) chr1:g.115738278G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738278G>T , CM000663.2:g.115738278G>T GRCh38
NC_000001.10:g.116280899G>T , CM000663.1:g.116280899G>T GRCh37
NC_000001.9:g.116082422G>T NCBI36
NG_008802.1:g.35528C>A , LRG_404:g.35528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.202C>A ENSP00000518226.1:p.Arg68Ser
ENST00000261448.6:c.478C>A MANE Select ENSP00000261448.5:p.Arg160Ser
ENST00000261448.5:c.478C>A ENSP00000261448.5:p.Arg160Ser
NM_001232.3:c.478C>A , LRG_404t1:c.478C>A NP_001223.2:p.Arg160Ser
NM_001232.4:c.478C>A MANE Select NP_001223.2:p.Arg160Ser
Search 100 bp 5'
Search 100 bp 3'