Canonical Allele Identifier: CA401339489
Gene: CBX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784680A>C , CM000679.2:g.79784680A>C GRCh38
NC_000017.10:g.77758479A>C , CM000679.1:g.77758479A>C GRCh37
NC_000017.9:g.75373074A>C NCBI36
NG_016986.1:g.11503A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1237A>C MANE Select ENSP00000308750.4:p.Lys413Gln
ENST00000310942.8:c.1237A>C ENSP00000308750.4:p.Lys413Gln
NM_005189.2:c.1237A>C NP_005180.1:p.Lys413Gln
XM_011525382.1:c.1237A>C XP_011523684.1:p.Lys413Gln
XM_011525383.1:c.982A>C XP_011523685.1:p.Lys328Gln
XM_011525383.2:c.982A>C XP_011523685.1:p.Lys328Gln
NM_005189.3:c.1237A>C MANE Select NP_005180.1:p.Lys413Gln