Canonical Allele Identifier: CA175367
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162816
ClinVar RCV Id: RCV000150225 RCV001100487
dbSNP Id: rs545407254
ExAC: 1:116275601 G / A
gnomAD v2: 1-116275601-G-A
gnomAD v3: 1-115732980-G-A
gnomAD v4: 1-115732980-G-A
MyVariant Identifiers: chr1:g.116275601G>A (hg19) chr1:g.115732980G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732980G>A , CM000663.2:g.115732980G>A GRCh38
NC_000001.10:g.116275601G>A , CM000663.1:g.116275601G>A GRCh37
NC_000001.9:g.116077124G>A NCBI36
NG_008802.1:g.40826C>T , LRG_404:g.40826C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.257-6C>T ENSP00000518226.1:n.257-6C>T
ENST00000261448.6:c.533-6C>T MANE Select ENSP00000261448.5:n.533-6C>T
ENST00000261448.5:c.533-6C>T ENSP00000261448.5:n.533-6C>T
NM_001232.3:c.533-6C>T , LRG_404t1:c.533-6C>T NP_001223.2:n.533-6C>T
NM_001232.4:c.533-6C>T MANE Select NP_001223.2:n.533-6C>T
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