Canonical Allele Identifier: CA395909603

Gene: RBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53459452C>T , CM000678.2:g.53459452C>T	GRCh38
NC_000016.9:g.53493364C>T , CM000678.1:g.53493364C>T	GRCh37
NC_000016.8:g.52050865C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005611.4:c.1181C>T MANE Select	NP_005602.3:p.Ser394Phe
ENST00000262133.11:c.1181C>T MANE Select	ENSP00000262133.6:p.Ser394Phe
NM_001323608.1:c.1181C>T	NP_001310537.1:p.Ser394Phe
NM_001323608.2:c.1181C>T	NP_001310537.1:p.Ser394Phe
NM_001323609.1:c.1181C>T	NP_001310538.1:p.Ser394Phe
NM_001323609.2:c.1181C>T	NP_001310538.1:p.Ser394Phe
NM_001323610.1:c.1181C>T	NP_001310539.1:p.Ser394Phe
NM_001323610.2:c.1181C>T	NP_001310539.1:p.Ser394Phe
NM_001323611.1:c.959C>T	NP_001310540.1:p.Ser320Phe
NM_005611.3:c.1181C>T	NP_005602.3:p.Ser394Phe
ENST00000262133.10:c.1181C>T	ENSP00000262133.6:p.Ser394Phe
ENST00000379935.8:n.880C>T
ENST00000544405.6:c.959C>T	ENSP00000443744.2:p.Ser320Phe
ENST00000544545.2:c.311C>T	ENSP00000444685.2:p.Ser104Phe
ENST00000680543.1:n.1320C>T
XM_005256083.3:c.959C>T	XP_005256140.1:p.Ser320Phe
XM_011523252.1:c.1181C>T	XP_011521554.1:p.Ser394Phe
XM_011523253.1:c.533C>T	XP_011521555.1:p.Ser178Phe
XM_011523253.2:c.533C>T	XP_011521555.1:p.Ser178Phe
XM_017023513.1:c.533C>T	XP_016879002.1:p.Ser178Phe