Canonical Allele Identifier: CA401339510
Gene: CBX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784682G>C , CM000679.2:g.79784682G>C GRCh38
NC_000017.10:g.77758481G>C , CM000679.1:g.77758481G>C GRCh37
NC_000017.9:g.75373076G>C NCBI36
NG_016986.1:g.11505G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000310942.9:c.1239G>C MANE Select ENSP00000308750.4:p.Lys413Asn
ENST00000310942.8:c.1239G>C ENSP00000308750.4:p.Lys413Asn
NM_005189.2:c.1239G>C NP_005180.1:p.Lys413Asn
XM_011525382.1:c.1239G>C XP_011523684.1:p.Lys413Asn
XM_011525383.1:c.984G>C XP_011523685.1:p.Lys328Asn
XM_011525383.2:c.984G>C XP_011523685.1:p.Lys328Asn
NM_005189.3:c.1239G>C MANE Select NP_005180.1:p.Lys413Asn