Canonical Allele Identifier: CA323997860
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2653108
ClinVar RCV Id: RCV003437553
dbSNP Id: rs944342384
gnomAD v3: 22-36564840-G-A
gnomAD v4: 22-36564840-G-A
MyVariant Identifiers: chr22:g.36960887G>A (hg19) chr22:g.36564840G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564840G>A , CM000684.2:g.36564840G>A GRCh38
NC_000022.10:g.36960887G>A , CM000684.1:g.36960887G>A GRCh37
NC_000022.9:g.35290833G>A NCBI36
NG_031861.1:g.142804C>T
NG_031861.2:g.143019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.483C>T MANE Select ENSP00000300105.6:p.Ala161=
ENST00000300105.6:c.483C>T ENSP00000300105.6:p.Ala161=
NM_006078.3:c.483C>T NP_006069.1:p.Ala161=
NM_006078.4:c.483C>T NP_006069.1:p.Ala161=
XM_017028531.2:c.225C>T XP_016884020.1:p.Ala75=
NM_001379051.1:c.414C>T NP_001365980.1:p.Ala138=
NM_006078.5:c.483C>T MANE Select NP_006069.1:p.Ala161=
NR_166440.1:n.1849C>T
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