Canonical Allele Identifier: CA323997738

Gene: CACNG2

Linked Data

• dbSNP Id: rs887134997
• gnomAD v3: 22-36564706-T-C
• gnomAD v4: 22-36564706-T-C
• MyVariant Identifiers: chr22:g.36960753T>C (hg19) ; chr22:g.36564706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564706T>C , CM000684.2:g.36564706T>C	GRCh38
NC_000022.10:g.36960753T>C , CM000684.1:g.36960753T>C	GRCh37
NC_000022.9:g.35290699T>C	NCBI36
NG_031861.1:g.142938A>G
NG_031861.2:g.143153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.617A>G MANE Select	ENSP00000300105.6:p.Lys206Arg
ENST00000300105.6:c.617A>G	ENSP00000300105.6:p.Lys206Arg
NM_006078.3:c.617A>G	NP_006069.1:p.Lys206Arg
NM_006078.4:c.617A>G	NP_006069.1:p.Lys206Arg
XM_017028531.2:c.359A>G	XP_016884020.1:p.Lys120Arg
NM_001379051.1:c.548A>G	NP_001365980.1:p.Lys183Arg
NM_006078.5:c.617A>G MANE Select	NP_006069.1:p.Lys206Arg
NR_166440.1:n.1983A>G