Canonical Allele Identifier: CA411377506

Gene: CACNG2

Linked Data

• dbSNP Id: rs1454406445
• gnomAD v4: 22-36564761-T-C
• MyVariant Identifiers: chr22:g.36960808T>C (hg19) ; chr22:g.36564761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564761T>C , CM000684.2:g.36564761T>C	GRCh38
NC_000022.10:g.36960808T>C , CM000684.1:g.36960808T>C	GRCh37
NC_000022.9:g.35290754T>C	NCBI36
NG_031861.1:g.142883A>G
NG_031861.2:g.143098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.562A>G MANE Select	ENSP00000300105.6:p.Ile188Val
ENST00000300105.6:c.562A>G	ENSP00000300105.6:p.Ile188Val
NM_006078.3:c.562A>G	NP_006069.1:p.Ile188Val
NM_006078.4:c.562A>G	NP_006069.1:p.Ile188Val
XM_017028531.2:c.304A>G	XP_016884020.1:p.Ile102Val
NM_001379051.1:c.493A>G	NP_001365980.1:p.Ile165Val
NM_006078.5:c.562A>G MANE Select	NP_006069.1:p.Ile188Val
NR_166440.1:n.1928A>G