Canonical Allele Identifier: CA411377291
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564731C>T , CM000684.2:g.36564731C>T GRCh38
NC_000022.10:g.36960778C>T , CM000684.1:g.36960778C>T GRCh37
NC_000022.9:g.35290724C>T NCBI36
NG_031861.1:g.142913G>A
NG_031861.2:g.143128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.592G>A MANE Select ENSP00000300105.6:p.Val198Met
ENST00000300105.6:c.592G>A ENSP00000300105.6:p.Val198Met
NM_006078.3:c.592G>A NP_006069.1:p.Val198Met
NM_006078.4:c.592G>A NP_006069.1:p.Val198Met
XM_017028531.2:c.334G>A XP_016884020.1:p.Val112Met
NM_001379051.1:c.523G>A NP_001365980.1:p.Val175Met
NM_006078.5:c.592G>A MANE Select NP_006069.1:p.Val198Met
NR_166440.1:n.1958G>A