Canonical Allele Identifier: CA411376838
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564666C>A , CM000684.2:g.36564666C>A GRCh38
NC_000022.10:g.36960713C>A , CM000684.1:g.36960713C>A GRCh37
NC_000022.9:g.35290659C>A NCBI36
NG_031861.1:g.142978G>T
NG_031861.2:g.143193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.657G>T MANE Select ENSP00000300105.6:p.Gln219His
ENST00000300105.6:c.657G>T ENSP00000300105.6:p.Gln219His
NM_006078.3:c.657G>T NP_006069.1:p.Gln219His
NM_006078.4:c.657G>T NP_006069.1:p.Gln219His
XM_017028531.2:c.399G>T XP_016884020.1:p.Gln133His
NM_001379051.1:c.588G>T NP_001365980.1:p.Gln196His
NM_006078.5:c.657G>T MANE Select NP_006069.1:p.Gln219His
NR_166440.1:n.2023G>T