Canonical Allele Identifier: CA411377459
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564754G>A , CM000684.2:g.36564754G>A GRCh38
NC_000022.10:g.36960801G>A , CM000684.1:g.36960801G>A GRCh37
NC_000022.9:g.35290747G>A NCBI36
NG_031861.1:g.142890C>T
NG_031861.2:g.143105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.569C>T MANE Select ENSP00000300105.6:p.Ala190Val
ENST00000300105.6:c.569C>T ENSP00000300105.6:p.Ala190Val
NM_006078.3:c.569C>T NP_006069.1:p.Ala190Val
NM_006078.4:c.569C>T NP_006069.1:p.Ala190Val
XM_017028531.2:c.311C>T XP_016884020.1:p.Ala104Val
NM_001379051.1:c.500C>T NP_001365980.1:p.Ala167Val
NM_006078.5:c.569C>T MANE Select NP_006069.1:p.Ala190Val
NR_166440.1:n.1935C>T