Canonical Allele Identifier: CA495783736

Gene: RBL2

Linked Data

• gnomAD v4: 16-53470811-G-A
• MyVariant Identifiers: chr16:g.53504723G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2592G>A MANE Select	ENSP00000262133.6:p.Leu864=
ENST00000680543.1:n.4383G>A
ENST00000262133.10:c.2592G>A	ENSP00000262133.6:p.Leu864=
ENST00000379935.8:n.2291G>A
ENST00000544545.2:c.1722G>A	ENSP00000444685.2:p.Leu574=
NM_005611.3:c.2592G>A	NP_005602.3:p.Leu864=
XM_005256083.3:c.2370G>A	XP_005256140.1:p.Leu790=
XM_011523252.1:c.2592G>A	XP_011521554.1:p.Leu864=
XM_011523253.1:c.1944G>A	XP_011521555.1:p.Leu648=
NM_001323608.1:c.2592G>A	NP_001310537.1:p.Leu864=
NM_001323609.1:c.2592G>A	NP_001310538.1:p.Leu864=
NM_001323610.1:c.2445G>A	NP_001310539.1:p.Leu815=
NM_001323611.1:c.2370G>A	NP_001310540.1:p.Leu790=
XM_011523253.2:c.1944G>A	XP_011521555.1:p.Leu648=
XM_017023513.1:c.1944G>A	XP_016879002.1:p.Leu648=
NM_005611.4:c.2592G>A MANE Select	NP_005602.3:p.Leu864=
NM_001323608.2:c.2592G>A	NP_001310537.1:p.Leu864=
NM_001323609.2:c.2592G>A	NP_001310538.1:p.Leu864=
NM_001323610.2:c.2445G>A	NP_001310539.1:p.Leu815=