Canonical Allele Identifier: CA411376208

Gene: CACNG2

Linked Data

• dbSNP Id: rs1157402464
• gnomAD v3: 22-36564611-G-A
• gnomAD v4: 22-36564611-G-A
• MyVariant Identifiers: chr22:g.36960658G>A (hg19) ; chr22:g.36564611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564611G>A , CM000684.2:g.36564611G>A	GRCh38
NC_000022.10:g.36960658G>A , CM000684.1:g.36960658G>A	GRCh37
NC_000022.9:g.35290604G>A	NCBI36
NG_031861.1:g.143033C>T
NG_031861.2:g.143248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.712C>T MANE Select	ENSP00000300105.6:p.Arg238Cys
ENST00000300105.6:c.712C>T	ENSP00000300105.6:p.Arg238Cys
NM_006078.3:c.712C>T	NP_006069.1:p.Arg238Cys
NM_006078.4:c.712C>T	NP_006069.1:p.Arg238Cys
XM_017028531.2:c.454C>T	XP_016884020.1:p.Arg152Cys
NM_001379051.1:c.643C>T	NP_001365980.1:p.Arg215Cys
NM_006078.5:c.712C>T MANE Select	NP_006069.1:p.Arg238Cys
NR_166440.1:n.2078C>T