Canonical Allele Identifier: CA411378338
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564853A>G , CM000684.2:g.36564853A>G GRCh38
NC_000022.10:g.36960900A>G , CM000684.1:g.36960900A>G GRCh37
NC_000022.9:g.35290846A>G NCBI36
NG_031861.1:g.142791T>C
NG_031861.2:g.143006T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.470T>C MANE Select ENSP00000300105.6:p.Ile157Thr
ENST00000300105.6:c.470T>C ENSP00000300105.6:p.Ile157Thr
NM_006078.3:c.470T>C NP_006069.1:p.Ile157Thr
NM_006078.4:c.470T>C NP_006069.1:p.Ile157Thr
XM_017028531.2:c.212T>C XP_016884020.1:p.Ile71Thr
NM_001379051.1:c.401T>C NP_001365980.1:p.Ile134Thr
NM_006078.5:c.470T>C MANE Select NP_006069.1:p.Ile157Thr
NR_166440.1:n.1836T>C