Canonical Allele Identifier: CA8056586
Gene: RBL2 HGNC NCBI

Linked Data

dbSNP Id: rs10748

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53470809T>C , CM000678.2:g.53470809T>C GRCh38
NC_000016.9:g.53504721T>C , CM000678.1:g.53504721T>C GRCh37
NC_000016.8:g.52062222T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262133.11:c.2590T>C MANE Select ENSP00000262133.6:p.Leu864=
ENST00000680543.1:n.4381T>C
ENST00000262133.10:c.2590T>C ENSP00000262133.6:p.Leu864=
ENST00000379935.8:n.2289T>C
ENST00000544545.2:c.1720T>C ENSP00000444685.2:p.Leu574=
NM_005611.3:c.2590T>C NP_005602.3:p.Leu864=
XM_005256083.3:c.2368T>C XP_005256140.1:p.Leu790=
XM_011523252.1:c.2590T>C XP_011521554.1:p.Leu864=
XM_011523253.1:c.1942T>C XP_011521555.1:p.Leu648=
NM_001323608.1:c.2590T>C NP_001310537.1:p.Leu864=
NM_001323609.1:c.2590T>C NP_001310538.1:p.Leu864=
NM_001323610.1:c.2443T>C NP_001310539.1:p.Leu815=
NM_001323611.1:c.2368T>C NP_001310540.1:p.Leu790=
XM_011523253.2:c.1942T>C XP_011521555.1:p.Leu648=
XM_017023513.1:c.1942T>C XP_016879002.1:p.Leu648=
NM_005611.4:c.2590T>C MANE Select NP_005602.3:p.Leu864=
NM_001323608.2:c.2590T>C NP_001310537.1:p.Leu864=
NM_001323609.2:c.2590T>C NP_001310538.1:p.Leu864=
NM_001323610.2:c.2443T>C NP_001310539.1:p.Leu815=