Canonical Allele Identifier: CA411377136

Gene: CACNG2

Linked Data

• dbSNP Id: rs1438259357
• gnomAD v4: 22-36564713-G-A
• MyVariant Identifiers: chr22:g.36960760G>A (hg19) ; chr22:g.36564713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36564713G>A , CM000684.2:g.36564713G>A	GRCh38
NC_000022.10:g.36960760G>A , CM000684.1:g.36960760G>A	GRCh37
NC_000022.9:g.35290706G>A	NCBI36
NG_031861.1:g.142931C>T
NG_031861.2:g.143146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300105.7:c.610C>T MANE Select	ENSP00000300105.6:p.Arg204Trp
ENST00000300105.6:c.610C>T	ENSP00000300105.6:p.Arg204Trp
NM_006078.3:c.610C>T	NP_006069.1:p.Arg204Trp
NM_006078.4:c.610C>T	NP_006069.1:p.Arg204Trp
XM_017028531.2:c.352C>T	XP_016884020.1:p.Arg118Trp
NM_001379051.1:c.541C>T	NP_001365980.1:p.Arg181Trp
NM_006078.5:c.610C>T MANE Select	NP_006069.1:p.Arg204Trp
NR_166440.1:n.1976C>T