Canonical Allele Identifier: CA395913814

Gene: RBL2

Linked Data

• gnomAD v4: 16-53470820-A-T
• MyVariant Identifiers: chr16:g.53504732A>T (hg19) ; chr16:g.53470820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470820A>T , CM000678.2:g.53470820A>T	GRCh38
NC_000016.9:g.53504732A>T , CM000678.1:g.53504732A>T	GRCh37
NC_000016.8:g.52062233A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2601A>T MANE Select	ENSP00000262133.6:p.Lys867Asn
ENST00000680543.1:n.4392A>T
ENST00000262133.10:c.2601A>T	ENSP00000262133.6:p.Lys867Asn
ENST00000379935.8:n.2300A>T
ENST00000544545.2:c.1731A>T	ENSP00000444685.2:p.Lys577Asn
NM_005611.3:c.2601A>T	NP_005602.3:p.Lys867Asn
XM_005256083.3:c.2379A>T	XP_005256140.1:p.Lys793Asn
XM_011523252.1:c.2601A>T	XP_011521554.1:p.Lys867Asn
XM_011523253.1:c.1953A>T	XP_011521555.1:p.Lys651Asn
NM_001323608.1:c.2601A>T	NP_001310537.1:p.Lys867Asn
NM_001323609.1:c.2601A>T	NP_001310538.1:p.Lys867Asn
NM_001323610.1:c.2454A>T	NP_001310539.1:p.Lys818Asn
NM_001323611.1:c.2379A>T	NP_001310540.1:p.Lys793Asn
XM_011523253.2:c.1953A>T	XP_011521555.1:p.Lys651Asn
XM_017023513.1:c.1953A>T	XP_016879002.1:p.Lys651Asn
NM_005611.4:c.2601A>T MANE Select	NP_005602.3:p.Lys867Asn
NM_001323608.2:c.2601A>T	NP_001310537.1:p.Lys867Asn
NM_001323609.2:c.2601A>T	NP_001310538.1:p.Lys867Asn
NM_001323610.2:c.2454A>T	NP_001310539.1:p.Lys818Asn