Canonical Allele Identifier: CA411377894
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564806T>A , CM000684.2:g.36564806T>A GRCh38
NC_000022.10:g.36960853T>A , CM000684.1:g.36960853T>A GRCh37
NC_000022.9:g.35290799T>A NCBI36
NG_031861.1:g.142838A>T
NG_031861.2:g.143053A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.517A>T MANE Select ENSP00000300105.6:p.Ser173Cys
ENST00000300105.6:c.517A>T ENSP00000300105.6:p.Ser173Cys
NM_006078.3:c.517A>T NP_006069.1:p.Ser173Cys
NM_006078.4:c.517A>T NP_006069.1:p.Ser173Cys
XM_017028531.2:c.259A>T XP_016884020.1:p.Ser87Cys
NM_001379051.1:c.448A>T NP_001365980.1:p.Ser150Cys
NM_006078.5:c.517A>T MANE Select NP_006069.1:p.Ser173Cys
NR_166440.1:n.1883A>T