Canonical Allele Identifier: CA126976

Gene: IL10RB

Linked Data

• ClinVar Variation Id: 16923
• ClinVar RCV Id: RCV000018431 ; RCV000392488 ; RCV000455211
• dbSNP Id: rs2834167
• ExAC: 21:34640788 A / G
• gnomAD v2: 21-34640788-A-G
• gnomAD v3: 21-33268483-A-G
• gnomAD v4: 21-33268483-A-G
• MyVariant Identifiers: chr21:g.34640788A>G (hg19) ; chr21:g.33268483A>G (hg38)
• PubMed: PMID:16757563

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33268483A>G , CM000683.2:g.33268483A>G	GRCh38
NC_000021.8:g.34640788A>G , CM000683.1:g.34640788A>G	GRCh37
NC_000021.7:g.33562658A>G	NCBI36
NG_012089.1:g.7117A>G , LRG_152:g.7117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433395.7:c.799A>G	ENSP00000388223.3:p.Lys267Glu
ENST00000609556.3:c.139A>G	ENSP00000489965.2:p.Lys47Glu
ENST00000637650.2:c.139A>G	ENSP00000489716.2:p.Lys47Glu
ENST00000696764.1:n.192A>G
ENST00000696765.1:n.15A>G
ENST00000682009.1:c.*249A>G	ENSP00000506919.1:n.*249A>G
ENST00000683116.1:c.*391A>G	ENSP00000508125.1:n.*391A>G
ENST00000290200.7:c.139A>G MANE Select	ENSP00000290200.2:p.Lys47Glu
ENST00000646150.1:c.*227A>G	ENSP00000496248.1:n.*227A>G
ENST00000290200.6:c.139A>G	ENSP00000290200.2:p.Lys47Glu
ENST00000422891.5:c.139A>G	ENSP00000414682.1:p.Lys47Glu
ENST00000432231.1:c.310-8113A>G
ENST00000433395.6:c.522A>G
ENST00000493295.5:n.556A>G
ENST00000498371.1:n.202A>G
NM_000628.4:c.139A>G	NP_000619.3:p.Lys47Glu
NM_000628.5:c.139A>G MANE Select	NP_000619.3:p.Lys47Glu