Canonical Allele Identifier: CA395913802
Gene: RBL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53470815A>T , CM000678.2:g.53470815A>T GRCh38
NC_000016.9:g.53504727A>T , CM000678.1:g.53504727A>T GRCh37
NC_000016.8:g.52062228A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262133.11:c.2596A>T MANE Select ENSP00000262133.6:p.Lys866Ter
ENST00000680543.1:n.4387A>T
ENST00000262133.10:c.2596A>T ENSP00000262133.6:p.Lys866Ter
ENST00000379935.8:n.2295A>T
ENST00000544545.2:c.1726A>T ENSP00000444685.2:p.Lys576Ter
NM_005611.3:c.2596A>T NP_005602.3:p.Lys866Ter
XM_005256083.3:c.2374A>T XP_005256140.1:p.Lys792Ter
XM_011523252.1:c.2596A>T XP_011521554.1:p.Lys866Ter
XM_011523253.1:c.1948A>T XP_011521555.1:p.Lys650Ter
NM_001323608.1:c.2596A>T NP_001310537.1:p.Lys866Ter
NM_001323609.1:c.2596A>T NP_001310538.1:p.Lys866Ter
NM_001323610.1:c.2449A>T NP_001310539.1:p.Lys817Ter
NM_001323611.1:c.2374A>T NP_001310540.1:p.Lys792Ter
XM_011523253.2:c.1948A>T XP_011521555.1:p.Lys650Ter
XM_017023513.1:c.1948A>T XP_016879002.1:p.Lys650Ter
NM_005611.4:c.2596A>T MANE Select NP_005602.3:p.Lys866Ter
NM_001323608.2:c.2596A>T NP_001310537.1:p.Lys866Ter
NM_001323609.2:c.2596A>T NP_001310538.1:p.Lys866Ter
NM_001323610.2:c.2449A>T NP_001310539.1:p.Lys817Ter