Canonical Allele Identifier: CA411377971
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564814T>A , CM000684.2:g.36564814T>A GRCh38
NC_000022.10:g.36960861T>A , CM000684.1:g.36960861T>A GRCh37
NC_000022.9:g.35290807T>A NCBI36
NG_031861.1:g.142830A>T
NG_031861.2:g.143045A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.509A>T MANE Select ENSP00000300105.6:p.Lys170Ile
ENST00000300105.6:c.509A>T ENSP00000300105.6:p.Lys170Ile
NM_006078.3:c.509A>T NP_006069.1:p.Lys170Ile
NM_006078.4:c.509A>T NP_006069.1:p.Lys170Ile
XM_017028531.2:c.251A>T XP_016884020.1:p.Lys84Ile
NM_001379051.1:c.440A>T NP_001365980.1:p.Lys147Ile
NM_006078.5:c.509A>T MANE Select NP_006069.1:p.Lys170Ile
NR_166440.1:n.1875A>T