Canonical Allele Identifier: CA411377985
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564817G>T , CM000684.2:g.36564817G>T GRCh38
NC_000022.10:g.36960864G>T , CM000684.1:g.36960864G>T GRCh37
NC_000022.9:g.35290810G>T NCBI36
NG_031861.1:g.142827C>A
NG_031861.2:g.143042C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.506C>A MANE Select ENSP00000300105.6:p.Ser169Tyr
ENST00000300105.6:c.506C>A ENSP00000300105.6:p.Ser169Tyr
NM_006078.3:c.506C>A NP_006069.1:p.Ser169Tyr
NM_006078.4:c.506C>A NP_006069.1:p.Ser169Tyr
XM_017028531.2:c.248C>A XP_016884020.1:p.Ser83Tyr
NM_001379051.1:c.437C>A NP_001365980.1:p.Ser146Tyr
NM_006078.5:c.506C>A MANE Select NP_006069.1:p.Ser169Tyr
NR_166440.1:n.1872C>A