Canonical Allele Identifier: CA1024015
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs755348930
ExAC: 1:116311177 G / A
gnomAD v2: 1-116311177-G-A
gnomAD v3: 1-115768556-G-A
gnomAD v4: 1-115768556-G-A
MyVariant Identifiers: chr1:g.116311177G>A (hg19) chr1:g.115768556G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768556G>A , CM000663.2:g.115768556G>A GRCh38
NC_000001.10:g.116311177G>A , CM000663.1:g.116311177G>A GRCh37
NC_000001.9:g.116112700G>A NCBI36
NG_008802.1:g.5250C>T , LRG_404:g.5250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-68C>T ENSP00000518226.1:n.-223-68C>T
ENST00000261448.6:c.-15C>T MANE Select ENSP00000261448.5:n.-15C>T
ENST00000261448.5:c.-15C>T ENSP00000261448.5:n.-15C>T
NM_001232.3:c.-15C>T , LRG_404t1:c.-15C>T NP_001223.2:n.-15C>T
NM_001232.4:c.-15C>T MANE Select NP_001223.2:n.-15C>T
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