Canonical Allele Identifier: CA395913830

Gene: RBL2

Linked Data

• MyVariant Identifiers: chr16:g.53504738G>C (hg19) ; chr16:g.53470826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470826G>C , CM000678.2:g.53470826G>C	GRCh38
NC_000016.9:g.53504738G>C , CM000678.1:g.53504738G>C	GRCh37
NC_000016.8:g.52062239G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2607G>C MANE Select	ENSP00000262133.6:p.Trp869Cys
ENST00000680543.1:n.4398G>C
ENST00000262133.10:c.2607G>C	ENSP00000262133.6:p.Trp869Cys
ENST00000379935.8:n.2306G>C
ENST00000544545.2:c.1737G>C	ENSP00000444685.2:p.Trp579Cys
NM_005611.3:c.2607G>C	NP_005602.3:p.Trp869Cys
XM_005256083.3:c.2385G>C	XP_005256140.1:p.Trp795Cys
XM_011523252.1:c.2607G>C	XP_011521554.1:p.Trp869Cys
XM_011523253.1:c.1959G>C	XP_011521555.1:p.Trp653Cys
NM_001323608.1:c.2607G>C	NP_001310537.1:p.Trp869Cys
NM_001323609.1:c.2607G>C	NP_001310538.1:p.Trp869Cys
NM_001323610.1:c.2460G>C	NP_001310539.1:p.Trp820Cys
NM_001323611.1:c.2385G>C	NP_001310540.1:p.Trp795Cys
XM_011523253.2:c.1959G>C	XP_011521555.1:p.Trp653Cys
XM_017023513.1:c.1959G>C	XP_016879002.1:p.Trp653Cys
NM_005611.4:c.2607G>C MANE Select	NP_005602.3:p.Trp869Cys
NM_001323608.2:c.2607G>C	NP_001310537.1:p.Trp869Cys
NM_001323609.2:c.2607G>C	NP_001310538.1:p.Trp869Cys
NM_001323610.2:c.2460G>C	NP_001310539.1:p.Trp820Cys