Canonical Allele Identifier: CA341767432
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418254
ClinVar RCV Id: RCV002557784
dbSNP Id: rs1649206559
gnomAD v4: 1-115768520-T-C
MyVariant Identifiers: chr1:g.116311141T>C (hg19) chr1:g.115768520T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768520T>C , CM000663.2:g.115768520T>C GRCh38
NC_000001.10:g.116311141T>C , CM000663.1:g.116311141T>C GRCh37
NC_000001.9:g.116112664T>C NCBI36
NG_008802.1:g.5286A>G , LRG_404:g.5286A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-32A>G ENSP00000518226.1:n.-223-32A>G
ENST00000261448.6:c.22A>G MANE Select ENSP00000261448.5:p.Ile8Val
ENST00000261448.5:c.22A>G ENSP00000261448.5:p.Ile8Val
NM_001232.3:c.22A>G , LRG_404t1:c.22A>G NP_001223.2:p.Ile8Val
NM_001232.4:c.22A>G MANE Select NP_001223.2:p.Ile8Val
Search 100 bp 5'
Search 100 bp 3'