Canonical Allele Identifier: CA395913819
Gene: RBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53470822T>A , CM000678.2:g.53470822T>A GRCh38
NC_000016.9:g.53504734T>A , CM000678.1:g.53504734T>A GRCh37
NC_000016.8:g.52062235T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262133.11:c.2603T>A MANE Select ENSP00000262133.6:p.Ile868Asn
ENST00000680543.1:n.4394T>A
ENST00000262133.10:c.2603T>A ENSP00000262133.6:p.Ile868Asn
ENST00000379935.8:n.2302T>A
ENST00000544545.2:c.1733T>A ENSP00000444685.2:p.Ile578Asn
NM_005611.3:c.2603T>A NP_005602.3:p.Ile868Asn
XM_005256083.3:c.2381T>A XP_005256140.1:p.Ile794Asn
XM_011523252.1:c.2603T>A XP_011521554.1:p.Ile868Asn
XM_011523253.1:c.1955T>A XP_011521555.1:p.Ile652Asn
NM_001323608.1:c.2603T>A NP_001310537.1:p.Ile868Asn
NM_001323609.1:c.2603T>A NP_001310538.1:p.Ile868Asn
NM_001323610.1:c.2456T>A NP_001310539.1:p.Ile819Asn
NM_001323611.1:c.2381T>A NP_001310540.1:p.Ile794Asn
XM_011523253.2:c.1955T>A XP_011521555.1:p.Ile652Asn
XM_017023513.1:c.1955T>A XP_016879002.1:p.Ile652Asn
NM_005611.4:c.2603T>A MANE Select NP_005602.3:p.Ile868Asn
NM_001323608.2:c.2603T>A NP_001310537.1:p.Ile868Asn
NM_001323609.2:c.2603T>A NP_001310538.1:p.Ile868Asn
NM_001323610.2:c.2456T>A NP_001310539.1:p.Ile819Asn