Canonical Allele Identifier: CA8056588

Gene: RBL2

Linked Data

• dbSNP Id: rs761273111
• ExAC: 16:53504746 T / G
• gnomAD v2: 16-53504746-T-G
• gnomAD v3: 16-53470834-T-G
• gnomAD v4: 16-53470834-T-G
• MyVariant Identifiers: chr16:g.53504746T>G (hg19) ; chr16:g.53470834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470834T>G , CM000678.2:g.53470834T>G	GRCh38
NC_000016.9:g.53504746T>G , CM000678.1:g.53504746T>G	GRCh37
NC_000016.8:g.52062247T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262133.11:c.2615T>G MANE Select	ENSP00000262133.6:p.Phe872Cys
ENST00000680543.1:n.4406T>G
ENST00000262133.10:c.2615T>G	ENSP00000262133.6:p.Phe872Cys
ENST00000379935.8:n.2314T>G
ENST00000544545.2:c.1745T>G	ENSP00000444685.2:p.Phe582Cys
NM_005611.3:c.2615T>G	NP_005602.3:p.Phe872Cys
XM_005256083.3:c.2393T>G	XP_005256140.1:p.Phe798Cys
XM_011523252.1:c.2615T>G	XP_011521554.1:p.Phe872Cys
XM_011523253.1:c.1967T>G	XP_011521555.1:p.Phe656Cys
NM_001323608.1:c.2615T>G	NP_001310537.1:p.Phe872Cys
NM_001323609.1:c.2615T>G	NP_001310538.1:p.Phe872Cys
NM_001323610.1:c.2468T>G	NP_001310539.1:p.Phe823Cys
NM_001323611.1:c.2393T>G	NP_001310540.1:p.Phe798Cys
XM_011523253.2:c.1967T>G	XP_011521555.1:p.Phe656Cys
XM_017023513.1:c.1967T>G	XP_016879002.1:p.Phe656Cys
NM_005611.4:c.2615T>G MANE Select	NP_005602.3:p.Phe872Cys
NM_001323608.2:c.2615T>G	NP_001310537.1:p.Phe872Cys
NM_001323609.2:c.2615T>G	NP_001310538.1:p.Phe872Cys
NM_001323610.2:c.2468T>G	NP_001310539.1:p.Phe823Cys