Canonical Allele Identifier: CA395913787

Gene: RBL2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262133.11:c.2590T>G MANE Select	ENSP00000262133.6:p.Leu864Val
ENST00000680543.1:n.4381T>G
ENST00000262133.10:c.2590T>G	ENSP00000262133.6:p.Leu864Val
ENST00000379935.8:n.2289T>G
ENST00000544545.2:c.1720T>G	ENSP00000444685.2:p.Leu574Val
NM_005611.3:c.2590T>G	NP_005602.3:p.Leu864Val
XM_005256083.3:c.2368T>G	XP_005256140.1:p.Leu790Val
XM_011523252.1:c.2590T>G	XP_011521554.1:p.Leu864Val
XM_011523253.1:c.1942T>G	XP_011521555.1:p.Leu648Val
NM_001323608.1:c.2590T>G	NP_001310537.1:p.Leu864Val
NM_001323609.1:c.2590T>G	NP_001310538.1:p.Leu864Val
NM_001323610.1:c.2443T>G	NP_001310539.1:p.Leu815Val
NM_001323611.1:c.2368T>G	NP_001310540.1:p.Leu790Val
XM_011523253.2:c.1942T>G	XP_011521555.1:p.Leu648Val
XM_017023513.1:c.1942T>G	XP_016879002.1:p.Leu648Val
NM_005611.4:c.2590T>G MANE Select	NP_005602.3:p.Leu864Val
NM_001323608.2:c.2590T>G	NP_001310537.1:p.Leu864Val
NM_001323609.2:c.2590T>G	NP_001310538.1:p.Leu864Val
NM_001323610.2:c.2443T>G	NP_001310539.1:p.Leu815Val