Canonical Allele Identifier: CA2838370367
Gene: CBX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79784874del , CM000679.2:g.79784874del GRCh38
NC_000017.10:g.77758673del , CM000679.1:g.77758673del GRCh37
NC_000017.9:g.75373268del NCBI36
NG_016986.1:g.11697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310942.9:c.1431del MANE Select ENSP00000308750.4:p.Ser478AlafsTer?
ENST00000310942.8:c.1431del ENSP00000308750.4:p.Ser478AlafsTer?
NM_005189.2:c.1431del NP_005180.1:p.Ser478AlafsTer?
XM_011525382.1:c.1431del XP_011523684.1:p.Ser478AlafsTer?
XM_011525383.1:c.1176del XP_011523685.1:p.Ser393AlafsTer?
XM_011525383.2:c.1176del XP_011523685.1:p.Ser393AlafsTer?
NM_005189.3:c.1431del MANE Select NP_005180.1:p.Ser478AlafsTer?