Canonical Allele Identifier: CA411378291
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564848C>A , CM000684.2:g.36564848C>A GRCh38
NC_000022.10:g.36960895C>A , CM000684.1:g.36960895C>A GRCh37
NC_000022.9:g.35290841C>A NCBI36
NG_031861.1:g.142796G>T
NG_031861.2:g.143011G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.475G>T MANE Select ENSP00000300105.6:p.Ala159Ser
ENST00000300105.6:c.475G>T ENSP00000300105.6:p.Ala159Ser
NM_006078.3:c.475G>T NP_006069.1:p.Ala159Ser
NM_006078.4:c.475G>T NP_006069.1:p.Ala159Ser
XM_017028531.2:c.217G>T XP_016884020.1:p.Ala73Ser
NM_001379051.1:c.406G>T NP_001365980.1:p.Ala136Ser
NM_006078.5:c.475G>T MANE Select NP_006069.1:p.Ala159Ser
NR_166440.1:n.1841G>T