Canonical Allele Identifier: CA1024017
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 509563
ClinVar RCV Id: RCV000616284
dbSNP Id: rs180956898
ExAC: 1:116311184 G / A
gnomAD v2: 1-116311184-G-A
gnomAD v3: 1-115768563-G-A
gnomAD v4: 1-115768563-G-A
MyVariant Identifiers: chr1:g.116311184G>A (hg19) chr1:g.115768563G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768563G>A , CM000663.2:g.115768563G>A GRCh38
NC_000001.10:g.116311184G>A , CM000663.1:g.116311184G>A GRCh37
NC_000001.9:g.116112707G>A NCBI36
NG_008802.1:g.5243C>T , LRG_404:g.5243C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-75C>T ENSP00000518226.1:n.-223-75C>T
ENST00000261448.6:c.-22C>T MANE Select ENSP00000261448.5:n.-22C>T
ENST00000261448.5:c.-22C>T ENSP00000261448.5:n.-22C>T
NM_001232.3:c.-22C>T , LRG_404t1:c.-22C>T NP_001223.2:n.-22C>T
NM_001232.4:c.-22C>T MANE Select NP_001223.2:n.-22C>T
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