Canonical Allele Identifier: CA411377968
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564813T>G , CM000684.2:g.36564813T>G GRCh38
NC_000022.10:g.36960860T>G , CM000684.1:g.36960860T>G GRCh37
NC_000022.9:g.35290806T>G NCBI36
NG_031861.1:g.142831A>C
NG_031861.2:g.143046A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.510A>C MANE Select ENSP00000300105.6:p.Lys170Asn
ENST00000300105.6:c.510A>C ENSP00000300105.6:p.Lys170Asn
NM_006078.3:c.510A>C NP_006069.1:p.Lys170Asn
NM_006078.4:c.510A>C NP_006069.1:p.Lys170Asn
XM_017028531.2:c.252A>C XP_016884020.1:p.Lys84Asn
NM_001379051.1:c.441A>C NP_001365980.1:p.Lys147Asn
NM_006078.5:c.510A>C MANE Select NP_006069.1:p.Lys170Asn
NR_166440.1:n.1876A>C