Canonical Allele Identifier: CA411376328

Gene: CACNG2

Linked Data

• dbSNP Id: rs1471422099
• gnomAD v2: 22-36960666-C-T
• gnomAD v4: 22-36564619-C-T
• MyVariant Identifiers: chr22:g.36960666C>T (hg19) ; chr22:g.36564619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564619C>T , CM000684.2:g.36564619C>T	GRCh38
NC_000022.10:g.36960666C>T , CM000684.1:g.36960666C>T	GRCh37
NC_000022.9:g.35290612C>T	NCBI36
NG_031861.1:g.143025G>A
NG_031861.2:g.143240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.704G>A MANE Select	ENSP00000300105.6:p.Arg235His
ENST00000300105.6:c.704G>A	ENSP00000300105.6:p.Arg235His
NM_006078.3:c.704G>A	NP_006069.1:p.Arg235His
NM_006078.4:c.704G>A	NP_006069.1:p.Arg235His
XM_017028531.2:c.446G>A	XP_016884020.1:p.Arg149His
NM_001379051.1:c.635G>A	NP_001365980.1:p.Arg212His
NM_006078.5:c.704G>A MANE Select	NP_006069.1:p.Arg235His
NR_166440.1:n.2070G>A