Canonical Allele Identifier: CA323997873
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1036047085
gnomAD v2: 22-36960929-C-T
gnomAD v3: 22-36564882-C-T
gnomAD v4: 22-36564882-C-T
COSMIC: COSM419566
MyVariant Identifiers: chr22:g.36960929C>T (hg19) chr22:g.36564882C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564882C>T , CM000684.2:g.36564882C>T GRCh38
NC_000022.10:g.36960929C>T , CM000684.1:g.36960929C>T GRCh37
NC_000022.9:g.35290875C>T NCBI36
NG_031861.1:g.142762G>A
NG_031861.2:g.142977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.441G>A MANE Select ENSP00000300105.6:p.Leu147=
ENST00000300105.6:c.441G>A ENSP00000300105.6:p.Leu147=
NM_006078.3:c.441G>A NP_006069.1:p.Leu147=
NM_006078.4:c.441G>A NP_006069.1:p.Leu147=
XM_017028531.2:c.183G>A XP_016884020.1:p.Leu61=
NM_001379051.1:c.372G>A NP_001365980.1:p.Leu124=
NM_006078.5:c.441G>A MANE Select NP_006069.1:p.Leu147=
NR_166440.1:n.1807G>A
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