Canonical Allele Identifier: CA281337105

Gene: RBL2

Linked Data

• dbSNP Id: rs14725
• gnomAD v4: 16-53470814-G-A
• MyVariant Identifiers: chr16:g.53504726G>A (hg19) ; chr16:g.53470814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470814G>A , CM000678.2:g.53470814G>A	GRCh38
NC_000016.9:g.53504726G>A , CM000678.1:g.53504726G>A	GRCh37
NC_000016.8:g.52062227G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2595G>A MANE Select	ENSP00000262133.6:p.Arg865=
ENST00000680543.1:n.4386G>A
ENST00000262133.10:c.2595G>A	ENSP00000262133.6:p.Arg865=
ENST00000379935.8:n.2294G>A
ENST00000544545.2:c.1725G>A	ENSP00000444685.2:p.Arg575=
NM_005611.3:c.2595G>A	NP_005602.3:p.Arg865=
XM_005256083.3:c.2373G>A	XP_005256140.1:p.Arg791=
XM_011523252.1:c.2595G>A	XP_011521554.1:p.Arg865=
XM_011523253.1:c.1947G>A	XP_011521555.1:p.Arg649=
NM_001323608.1:c.2595G>A	NP_001310537.1:p.Arg865=
NM_001323609.1:c.2595G>A	NP_001310538.1:p.Arg865=
NM_001323610.1:c.2448G>A	NP_001310539.1:p.Arg816=
NM_001323611.1:c.2373G>A	NP_001310540.1:p.Arg791=
XM_011523253.2:c.1947G>A	XP_011521555.1:p.Arg649=
XM_017023513.1:c.1947G>A	XP_016879002.1:p.Arg649=
NM_005611.4:c.2595G>A MANE Select	NP_005602.3:p.Arg865=
NM_001323608.2:c.2595G>A	NP_001310537.1:p.Arg865=
NM_001323609.2:c.2595G>A	NP_001310538.1:p.Arg865=
NM_001323610.2:c.2448G>A	NP_001310539.1:p.Arg816=