Canonical Allele Identifier: CA411376336

Gene: CACNG2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.704G>T MANE Select	ENSP00000300105.6:p.Arg235Leu
ENST00000300105.6:c.704G>T	ENSP00000300105.6:p.Arg235Leu
NM_006078.3:c.704G>T	NP_006069.1:p.Arg235Leu
NM_006078.4:c.704G>T	NP_006069.1:p.Arg235Leu
XM_017028531.2:c.446G>T	XP_016884020.1:p.Arg149Leu
NM_001379051.1:c.635G>T	NP_001365980.1:p.Arg212Leu
NM_006078.5:c.704G>T MANE Select	NP_006069.1:p.Arg235Leu
NR_166440.1:n.2070G>T