Canonical Allele Identifier: CA525433273
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906448
ClinVar RCV Id: RCV003639145
dbSNP Id: rs1273628533
gnomAD v2: 1-116275608-A-G
gnomAD v3: 1-115732987-A-G
gnomAD v4: 1-115732987-A-G
MyVariant Identifiers: chr1:g.116275608A>G (hg19) chr1:g.115732987A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732987A>G , CM000663.2:g.115732987A>G GRCh38
NC_000001.10:g.116275608A>G , CM000663.1:g.116275608A>G GRCh37
NC_000001.9:g.116077131A>G NCBI36
NG_008802.1:g.40819T>C , LRG_404:g.40819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.257-13T>C ENSP00000518226.1:n.257-13T>C
ENST00000261448.6:c.533-13T>C MANE Select ENSP00000261448.5:n.533-13T>C
ENST00000261448.5:c.533-13T>C ENSP00000261448.5:n.533-13T>C
NM_001232.3:c.533-13T>C , LRG_404t1:c.533-13T>C NP_001223.2:n.533-13T>C
NM_001232.4:c.533-13T>C MANE Select NP_001223.2:n.533-13T>C
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