Canonical Allele Identifier: CA411377724
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564790C>A , CM000684.2:g.36564790C>A GRCh38
NC_000022.10:g.36960837C>A , CM000684.1:g.36960837C>A GRCh37
NC_000022.9:g.35290783C>A NCBI36
NG_031861.1:g.142854G>T
NG_031861.2:g.143069G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.533G>T MANE Select ENSP00000300105.6:p.Trp178Leu
ENST00000300105.6:c.533G>T ENSP00000300105.6:p.Trp178Leu
NM_006078.3:c.533G>T NP_006069.1:p.Trp178Leu
NM_006078.4:c.533G>T NP_006069.1:p.Trp178Leu
XM_017028531.2:c.275G>T XP_016884020.1:p.Trp92Leu
NM_001379051.1:c.464G>T NP_001365980.1:p.Trp155Leu
NM_006078.5:c.533G>T MANE Select NP_006069.1:p.Trp178Leu
NR_166440.1:n.1899G>T