Canonical Allele Identifier: CA395913791

Gene: RBL2

Linked Data

• dbSNP Id: rs2150814788
• MyVariant Identifiers: chr16:g.53504723G>C (hg19) ; chr16:g.53470811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470811G>C , CM000678.2:g.53470811G>C	GRCh38
NC_000016.9:g.53504723G>C , CM000678.1:g.53504723G>C	GRCh37
NC_000016.8:g.52062224G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2592G>C MANE Select	ENSP00000262133.6:p.Leu864Phe
ENST00000680543.1:n.4383G>C
ENST00000262133.10:c.2592G>C	ENSP00000262133.6:p.Leu864Phe
ENST00000379935.8:n.2291G>C
ENST00000544545.2:c.1722G>C	ENSP00000444685.2:p.Leu574Phe
NM_005611.3:c.2592G>C	NP_005602.3:p.Leu864Phe
XM_005256083.3:c.2370G>C	XP_005256140.1:p.Leu790Phe
XM_011523252.1:c.2592G>C	XP_011521554.1:p.Leu864Phe
XM_011523253.1:c.1944G>C	XP_011521555.1:p.Leu648Phe
NM_001323608.1:c.2592G>C	NP_001310537.1:p.Leu864Phe
NM_001323609.1:c.2592G>C	NP_001310538.1:p.Leu864Phe
NM_001323610.1:c.2445G>C	NP_001310539.1:p.Leu815Phe
NM_001323611.1:c.2370G>C	NP_001310540.1:p.Leu790Phe
XM_011523253.2:c.1944G>C	XP_011521555.1:p.Leu648Phe
XM_017023513.1:c.1944G>C	XP_016879002.1:p.Leu648Phe
NM_005611.4:c.2592G>C MANE Select	NP_005602.3:p.Leu864Phe
NM_001323608.2:c.2592G>C	NP_001310537.1:p.Leu864Phe
NM_001323609.2:c.2592G>C	NP_001310538.1:p.Leu864Phe
NM_001323610.2:c.2445G>C	NP_001310539.1:p.Leu815Phe