Canonical Allele Identifier: CA395913803

Gene: RBL2

Linked Data

• MyVariant Identifiers: chr16:g.53504728A>C (hg19) ; chr16:g.53470816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470816A>C , CM000678.2:g.53470816A>C	GRCh38
NC_000016.9:g.53504728A>C , CM000678.1:g.53504728A>C	GRCh37
NC_000016.8:g.52062229A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2597A>C MANE Select	ENSP00000262133.6:p.Lys866Thr
ENST00000680543.1:n.4388A>C
ENST00000262133.10:c.2597A>C	ENSP00000262133.6:p.Lys866Thr
ENST00000379935.8:n.2296A>C
ENST00000544545.2:c.1727A>C	ENSP00000444685.2:p.Lys576Thr
NM_005611.3:c.2597A>C	NP_005602.3:p.Lys866Thr
XM_005256083.3:c.2375A>C	XP_005256140.1:p.Lys792Thr
XM_011523252.1:c.2597A>C	XP_011521554.1:p.Lys866Thr
XM_011523253.1:c.1949A>C	XP_011521555.1:p.Lys650Thr
NM_001323608.1:c.2597A>C	NP_001310537.1:p.Lys866Thr
NM_001323609.1:c.2597A>C	NP_001310538.1:p.Lys866Thr
NM_001323610.1:c.2450A>C	NP_001310539.1:p.Lys817Thr
NM_001323611.1:c.2375A>C	NP_001310540.1:p.Lys792Thr
XM_011523253.2:c.1949A>C	XP_011521555.1:p.Lys650Thr
XM_017023513.1:c.1949A>C	XP_016879002.1:p.Lys650Thr
NM_005611.4:c.2597A>C MANE Select	NP_005602.3:p.Lys866Thr
NM_001323608.2:c.2597A>C	NP_001310537.1:p.Lys866Thr
NM_001323609.2:c.2597A>C	NP_001310538.1:p.Lys866Thr
NM_001323610.2:c.2450A>C	NP_001310539.1:p.Lys817Thr