Canonical Allele Identifier: CA411377943
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564811T>A , CM000684.2:g.36564811T>A GRCh38
NC_000022.10:g.36960858T>A , CM000684.1:g.36960858T>A GRCh37
NC_000022.9:g.35290804T>A NCBI36
NG_031861.1:g.142833A>T
NG_031861.2:g.143048A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.512A>T MANE Select ENSP00000300105.6:p.Lys171Met
ENST00000300105.6:c.512A>T ENSP00000300105.6:p.Lys171Met
NM_006078.3:c.512A>T NP_006069.1:p.Lys171Met
NM_006078.4:c.512A>T NP_006069.1:p.Lys171Met
XM_017028531.2:c.254A>T XP_016884020.1:p.Lys85Met
NM_001379051.1:c.443A>T NP_001365980.1:p.Lys148Met
NM_006078.5:c.512A>T MANE Select NP_006069.1:p.Lys171Met
NR_166440.1:n.1878A>T