Canonical Allele Identifier: CA8056569

Gene: RBL2

Linked Data

• dbSNP Id: rs199639599
• ExAC: 16:53504643 G / C
• gnomAD v2: 16-53504643-G-C
• gnomAD v3: 16-53470731-G-C
• gnomAD v4: 16-53470731-G-C
• MyVariant Identifiers: chr16:g.53504643G>C (hg19) ; chr16:g.53470731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470731G>C , CM000678.2:g.53470731G>C	GRCh38
NC_000016.9:g.53504643G>C , CM000678.1:g.53504643G>C	GRCh37
NC_000016.8:g.52062144G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2527-15G>C MANE Select	ENSP00000262133.6:n.2527-15G>C
ENST00000680543.1:n.4318-15G>C
ENST00000262133.10:c.2527-15G>C	ENSP00000262133.6:n.2527-15G>C
ENST00000379935.8:n.2226-15G>C
ENST00000544545.2:c.1657-15G>C	ENSP00000444685.2:n.1657-15G>C
NM_005611.3:c.2527-15G>C	NP_005602.3:n.2527-15G>C
XM_005256083.3:c.2305-15G>C	XP_005256140.1:n.2305-15G>C
XM_011523252.1:c.2527-15G>C	XP_011521554.1:n.2527-15G>C
XM_011523253.1:c.1879-15G>C	XP_011521555.1:n.1879-15G>C
NM_001323608.1:c.2527-15G>C	NP_001310537.1:n.2527-15G>C
NM_001323609.1:c.2527-15G>C	NP_001310538.1:n.2527-15G>C
NM_001323610.1:c.2380-15G>C	NP_001310539.1:n.2380-15G>C
NM_001323611.1:c.2305-15G>C	NP_001310540.1:n.2305-15G>C
XM_011523253.2:c.1879-15G>C	XP_011521555.1:n.1879-15G>C
XM_017023513.1:c.1879-15G>C	XP_016879002.1:n.1879-15G>C
NM_005611.4:c.2527-15G>C MANE Select	NP_005602.3:n.2527-15G>C
NM_001323608.2:c.2527-15G>C	NP_001310537.1:n.2527-15G>C
NM_001323609.2:c.2527-15G>C	NP_001310538.1:n.2527-15G>C
NM_001323610.2:c.2380-15G>C	NP_001310539.1:n.2380-15G>C