Canonical Allele Identifier: CA411378433
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564866T>A , CM000684.2:g.36564866T>A GRCh38
NC_000022.10:g.36960913T>A , CM000684.1:g.36960913T>A GRCh37
NC_000022.9:g.35290859T>A NCBI36
NG_031861.1:g.142778A>T
NG_031861.2:g.142993A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.457A>T MANE Select ENSP00000300105.6:p.Ile153Phe
ENST00000300105.6:c.457A>T ENSP00000300105.6:p.Ile153Phe
NM_006078.3:c.457A>T NP_006069.1:p.Ile153Phe
NM_006078.4:c.457A>T NP_006069.1:p.Ile153Phe
XM_017028531.2:c.199A>T XP_016884020.1:p.Ile67Phe
NM_001379051.1:c.388A>T NP_001365980.1:p.Ile130Phe
NM_006078.5:c.457A>T MANE Select NP_006069.1:p.Ile153Phe
NR_166440.1:n.1823A>T