Canonical Allele Identifier: CA411377086
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564706T>A , CM000684.2:g.36564706T>A GRCh38
NC_000022.10:g.36960753T>A , CM000684.1:g.36960753T>A GRCh37
NC_000022.9:g.35290699T>A NCBI36
NG_031861.1:g.142938A>T
NG_031861.2:g.143153A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.617A>T MANE Select ENSP00000300105.6:p.Lys206Ile
ENST00000300105.6:c.617A>T ENSP00000300105.6:p.Lys206Ile
NM_006078.3:c.617A>T NP_006069.1:p.Lys206Ile
NM_006078.4:c.617A>T NP_006069.1:p.Lys206Ile
XM_017028531.2:c.359A>T XP_016884020.1:p.Lys120Ile
NM_001379051.1:c.548A>T NP_001365980.1:p.Lys183Ile
NM_006078.5:c.617A>T MANE Select NP_006069.1:p.Lys206Ile
NR_166440.1:n.1983A>T