Canonical Allele Identifier: CA1023890
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1562104
ClinVar RCV Id: RCV002561624
dbSNP Id: rs768587375
ExAC: 1:116280828 G / T
gnomAD v2: 1-116280828-G-T
gnomAD v3: 1-115738207-G-T
gnomAD v4: 1-115738207-G-T
COSMIC: COSN25258790
MyVariant Identifiers: chr1:g.116280828G>T (hg19) chr1:g.115738207G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738207G>T , CM000663.2:g.115738207G>T GRCh38
NC_000001.10:g.116280828G>T , CM000663.1:g.116280828G>T GRCh37
NC_000001.9:g.116082351G>T NCBI36
NG_008802.1:g.35599C>A , LRG_404:g.35599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.256+17C>A ENSP00000518226.1:n.256+17C>A
ENST00000261448.6:c.532+17C>A MANE Select ENSP00000261448.5:n.532+17C>A
ENST00000261448.5:c.532+17C>A ENSP00000261448.5:n.532+17C>A
NM_001232.3:c.532+17C>A , LRG_404t1:c.532+17C>A NP_001223.2:n.532+17C>A
NM_001232.4:c.532+17C>A MANE Select NP_001223.2:n.532+17C>A
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