Canonical Allele Identifier: CA10212129
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252658
ClinVar RCV Id: RCV000239025 RCV000727327 RCV003955395
dbSNP Id: rs139052540
ExAC: 22:36960730 C / T
gnomAD v2: 22-36960730-C-T
gnomAD v3: 22-36564683-C-T
gnomAD v4: 22-36564683-C-T
MyVariant Identifiers: chr22:g.36960730C>T (hg19) chr22:g.36564683C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564683C>T , CM000684.2:g.36564683C>T GRCh38
NC_000022.10:g.36960730C>T , CM000684.1:g.36960730C>T GRCh37
NC_000022.9:g.35290676C>T NCBI36
NG_031861.1:g.142961G>A
NG_031861.2:g.143176G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300105.7:c.640G>A MANE Select ENSP00000300105.6:p.Ala214Thr
ENST00000300105.6:c.640G>A ENSP00000300105.6:p.Ala214Thr
NM_006078.3:c.640G>A NP_006069.1:p.Ala214Thr
NM_006078.4:c.640G>A NP_006069.1:p.Ala214Thr
XM_017028531.2:c.382G>A XP_016884020.1:p.Ala128Thr
NM_001379051.1:c.571G>A NP_001365980.1:p.Ala191Thr
NM_006078.5:c.640G>A MANE Select NP_006069.1:p.Ala214Thr
NR_166440.1:n.2006G>A
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