Canonical Allele Identifier: CA411377584

Gene: CACNG2

Linked Data

• dbSNP Id: rs1291968261
• gnomAD v2: 22-36960819-G-T
• gnomAD v4: 22-36564772-G-T
• MyVariant Identifiers: chr22:g.36960819G>T (hg19) ; chr22:g.36564772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564772G>T , CM000684.2:g.36564772G>T	GRCh38
NC_000022.10:g.36960819G>T , CM000684.1:g.36960819G>T	GRCh37
NC_000022.9:g.35290765G>T	NCBI36
NG_031861.1:g.142872C>A
NG_031861.2:g.143087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.551C>A MANE Select	ENSP00000300105.6:p.Ala184Asp
ENST00000300105.6:c.551C>A	ENSP00000300105.6:p.Ala184Asp
NM_006078.3:c.551C>A	NP_006069.1:p.Ala184Asp
NM_006078.4:c.551C>A	NP_006069.1:p.Ala184Asp
XM_017028531.2:c.293C>A	XP_016884020.1:p.Ala98Asp
NM_001379051.1:c.482C>A	NP_001365980.1:p.Ala161Asp
NM_006078.5:c.551C>A MANE Select	NP_006069.1:p.Ala184Asp
NR_166440.1:n.1917C>A