Canonical Allele Identifier: CA323997643

Gene: CACNG2

Linked Data

• ClinVar Variation Id: 1754457
• ClinVar RCV Id: RCV004054457
• dbSNP Id: rs970675754
• gnomAD v2: 22-36960710-G-A
• gnomAD v3: 22-36564663-G-A
• gnomAD v4: 22-36564663-G-A
• MyVariant Identifiers: chr22:g.36960710G>A (hg19) ; chr22:g.36564663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564663G>A , CM000684.2:g.36564663G>A	GRCh38
NC_000022.10:g.36960710G>A , CM000684.1:g.36960710G>A	GRCh37
NC_000022.9:g.35290656G>A	NCBI36
NG_031861.1:g.142981C>T
NG_031861.2:g.143196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.660C>T MANE Select	ENSP00000300105.6:p.Ala220=
ENST00000300105.6:c.660C>T	ENSP00000300105.6:p.Ala220=
NM_006078.3:c.660C>T	NP_006069.1:p.Ala220=
NM_006078.4:c.660C>T	NP_006069.1:p.Ala220=
XM_017028531.2:c.402C>T	XP_016884020.1:p.Ala134=
NM_001379051.1:c.591C>T	NP_001365980.1:p.Ala197=
NM_006078.5:c.660C>T MANE Select	NP_006069.1:p.Ala220=
NR_166440.1:n.2026C>T