Canonical Allele Identifier: CA1023889
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3014273
ClinVar RCV Id: RCV003875912
dbSNP Id: rs768587375
ExAC: 1:116280828 G / A
gnomAD v2: 1-116280828-G-A
gnomAD v4: 1-115738207-G-A
MyVariant Identifiers: chr1:g.116280828G>A (hg19) chr1:g.115738207G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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