Canonical Allele Identifier: CA514475188
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1935096489
MyVariant Identifiers: chr22:g.36960740G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564693G>A , CM000684.2:g.36564693G>A GRCh38
NC_000022.10:g.36960740G>A , CM000684.1:g.36960740G>A GRCh37
NC_000022.9:g.35290686G>A NCBI36
NG_031861.1:g.142951C>T
NG_031861.2:g.143166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.630C>T MANE Select ENSP00000300105.6:p.Ala210=
ENST00000300105.6:c.630C>T ENSP00000300105.6:p.Ala210=
NM_006078.3:c.630C>T NP_006069.1:p.Ala210=
NM_006078.4:c.630C>T NP_006069.1:p.Ala210=
XM_017028531.2:c.372C>T XP_016884020.1:p.Ala124=
NM_001379051.1:c.561C>T NP_001365980.1:p.Ala187=
NM_006078.5:c.630C>T MANE Select NP_006069.1:p.Ala210=
NR_166440.1:n.1996C>T