Canonical Allele Identifier: CA411378034
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564823C>G , CM000684.2:g.36564823C>G GRCh38
NC_000022.10:g.36960870C>G , CM000684.1:g.36960870C>G GRCh37
NC_000022.9:g.35290816C>G NCBI36
NG_031861.1:g.142821G>C
NG_031861.2:g.143036G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.500G>C MANE Select ENSP00000300105.6:p.Ser167Thr
ENST00000300105.6:c.500G>C ENSP00000300105.6:p.Ser167Thr
NM_006078.3:c.500G>C NP_006069.1:p.Ser167Thr
NM_006078.4:c.500G>C NP_006069.1:p.Ser167Thr
XM_017028531.2:c.242G>C XP_016884020.1:p.Ser81Thr
NM_001379051.1:c.431G>C NP_001365980.1:p.Ser144Thr
NM_006078.5:c.500G>C MANE Select NP_006069.1:p.Ser167Thr
NR_166440.1:n.1866G>C