Canonical Allele Identifier: CA1023898
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 966355
ClinVar RCV Id: RCV002339666 RCV002568540 RCV003339556
dbSNP Id: rs750680032
ExAC: 1:116280899 G / A
gnomAD v2: 1-116280899-G-A
gnomAD v3: 1-115738278-G-A
gnomAD v4: 1-115738278-G-A
MyVariant Identifiers: chr1:g.116280899G>A (hg19) chr1:g.115738278G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.202C>T ENSP00000518226.1:p.Arg68Cys
ENST00000261448.6:c.478C>T MANE Select ENSP00000261448.5:p.Arg160Cys
ENST00000261448.5:c.478C>T ENSP00000261448.5:p.Arg160Cys
NM_001232.3:c.478C>T , LRG_404t1:c.478C>T NP_001223.2:p.Arg160Cys
NM_001232.4:c.478C>T MANE Select NP_001223.2:p.Arg160Cys
Search 100 bp 5'
Search 100 bp 3'