Canonical Allele Identifier: CA411376491
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564634C>A , CM000684.2:g.36564634C>A GRCh38
NC_000022.10:g.36960681C>A , CM000684.1:g.36960681C>A GRCh37
NC_000022.9:g.35290627C>A NCBI36
NG_031861.1:g.143010G>T
NG_031861.2:g.143225G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.689G>T MANE Select ENSP00000300105.6:p.Arg230Leu
ENST00000300105.6:c.689G>T ENSP00000300105.6:p.Arg230Leu
NM_006078.3:c.689G>T NP_006069.1:p.Arg230Leu
NM_006078.4:c.689G>T NP_006069.1:p.Arg230Leu
XM_017028531.2:c.431G>T XP_016884020.1:p.Arg144Leu
NM_001379051.1:c.620G>T NP_001365980.1:p.Arg207Leu
NM_006078.5:c.689G>T MANE Select NP_006069.1:p.Arg230Leu
NR_166440.1:n.2055G>T