Canonical Allele Identifier: CA411377132
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564712C>A , CM000684.2:g.36564712C>A GRCh38
NC_000022.10:g.36960759C>A , CM000684.1:g.36960759C>A GRCh37
NC_000022.9:g.35290705C>A NCBI36
NG_031861.1:g.142932G>T
NG_031861.2:g.143147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.611G>T MANE Select ENSP00000300105.6:p.Arg204Leu
ENST00000300105.6:c.611G>T ENSP00000300105.6:p.Arg204Leu
NM_006078.3:c.611G>T NP_006069.1:p.Arg204Leu
NM_006078.4:c.611G>T NP_006069.1:p.Arg204Leu
XM_017028531.2:c.353G>T XP_016884020.1:p.Arg118Leu
NM_001379051.1:c.542G>T NP_001365980.1:p.Arg181Leu
NM_006078.5:c.611G>T MANE Select NP_006069.1:p.Arg204Leu
NR_166440.1:n.1977G>T