Canonical Allele Identifier: CA411376616

Gene: CACNG2

Linked Data

• gnomAD v4: 22-36564641-T-C
• MyVariant Identifiers: chr22:g.36960688T>C (hg19) ; chr22:g.36564641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564641T>C , CM000684.2:g.36564641T>C	GRCh38
NC_000022.10:g.36960688T>C , CM000684.1:g.36960688T>C	GRCh37
NC_000022.9:g.35290634T>C	NCBI36
NG_031861.1:g.143003A>G
NG_031861.2:g.143218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.682A>G MANE Select	ENSP00000300105.6:p.Ser228Gly
ENST00000300105.6:c.682A>G	ENSP00000300105.6:p.Ser228Gly
NM_006078.3:c.682A>G	NP_006069.1:p.Ser228Gly
NM_006078.4:c.682A>G	NP_006069.1:p.Ser228Gly
XM_017028531.2:c.424A>G	XP_016884020.1:p.Ser142Gly
NM_001379051.1:c.613A>G	NP_001365980.1:p.Ser205Gly
NM_006078.5:c.682A>G MANE Select	NP_006069.1:p.Ser228Gly
NR_166440.1:n.2048A>G