Canonical Allele Identifier: CA401339531
Gene: CBX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784684T>A , CM000679.2:g.79784684T>A GRCh38
NC_000017.10:g.77758483T>A , CM000679.1:g.77758483T>A GRCh37
NC_000017.9:g.75373078T>A NCBI36
NG_016986.1:g.11507T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1241T>A MANE Select ENSP00000308750.4:p.Leu414Gln
ENST00000310942.8:c.1241T>A ENSP00000308750.4:p.Leu414Gln
NM_005189.2:c.1241T>A NP_005180.1:p.Leu414Gln
XM_011525382.1:c.1241T>A XP_011523684.1:p.Leu414Gln
XM_011525383.1:c.986T>A XP_011523685.1:p.Leu329Gln
XM_011525383.2:c.986T>A XP_011523685.1:p.Leu329Gln
NM_005189.3:c.1241T>A MANE Select NP_005180.1:p.Leu414Gln