Canonical Allele Identifier: CA323997759
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2661916
ClinVar RCV Id: RCV003441170
dbSNP Id: rs915061917
gnomAD v2: 22-36960781-C-T
gnomAD v4: 22-36564734-C-T
MyVariant Identifiers: chr22:g.36960781C>T (hg19) chr22:g.36564734C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564734C>T , CM000684.2:g.36564734C>T GRCh38
NC_000022.10:g.36960781C>T , CM000684.1:g.36960781C>T GRCh37
NC_000022.9:g.35290727C>T NCBI36
NG_031861.1:g.142910G>A
NG_031861.2:g.143125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.589G>A MANE Select ENSP00000300105.6:p.Ala197Thr
ENST00000300105.6:c.589G>A ENSP00000300105.6:p.Ala197Thr
NM_006078.3:c.589G>A NP_006069.1:p.Ala197Thr
NM_006078.4:c.589G>A NP_006069.1:p.Ala197Thr
XM_017028531.2:c.331G>A XP_016884020.1:p.Ala111Thr
NM_001379051.1:c.520G>A NP_001365980.1:p.Ala174Thr
NM_006078.5:c.589G>A MANE Select NP_006069.1:p.Ala197Thr
NR_166440.1:n.1955G>A
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