Canonical Allele Identifier: CA411378413

Gene: CACNG2

Linked Data

• dbSNP Id: rs1226953978
• gnomAD v2: 22-36960909-A-G
• gnomAD v4: 22-36564862-A-G
• MyVariant Identifiers: chr22:g.36960909A>G (hg19) ; chr22:g.36564862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564862A>G , CM000684.2:g.36564862A>G	GRCh38
NC_000022.10:g.36960909A>G , CM000684.1:g.36960909A>G	GRCh37
NC_000022.9:g.35290855A>G	NCBI36
NG_031861.1:g.142782T>C
NG_031861.2:g.142997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.461T>C MANE Select	ENSP00000300105.6:p.Ile154Thr
ENST00000300105.6:c.461T>C	ENSP00000300105.6:p.Ile154Thr
NM_006078.3:c.461T>C	NP_006069.1:p.Ile154Thr
NM_006078.4:c.461T>C	NP_006069.1:p.Ile154Thr
XM_017028531.2:c.203T>C	XP_016884020.1:p.Ile68Thr
NM_001379051.1:c.392T>C	NP_001365980.1:p.Ile131Thr
NM_006078.5:c.461T>C MANE Select	NP_006069.1:p.Ile154Thr
NR_166440.1:n.1827T>C