Canonical Allele Identifier: CA411376042
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564592G>T , CM000684.2:g.36564592G>T GRCh38
NC_000022.10:g.36960639G>T , CM000684.1:g.36960639G>T GRCh37
NC_000022.9:g.35290585G>T NCBI36
NG_031861.1:g.143052C>A
NG_031861.2:g.143267C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.731C>A MANE Select ENSP00000300105.6:p.Thr244Lys
ENST00000300105.6:c.731C>A ENSP00000300105.6:p.Thr244Lys
NM_006078.3:c.731C>A NP_006069.1:p.Thr244Lys
NM_006078.4:c.731C>A NP_006069.1:p.Thr244Lys
XM_017028531.2:c.473C>A XP_016884020.1:p.Thr158Lys
NM_001379051.1:c.662C>A NP_001365980.1:p.Thr221Lys
NM_006078.5:c.731C>A MANE Select NP_006069.1:p.Thr244Lys
NR_166440.1:n.2097C>A