Canonical Allele Identifier: CA11025311

Gene: IL1RN

Linked Data

• ClinVar Variation Id: 1258566
• ClinVar RCV Id: RCV001671096
• dbSNP Id: rs4251969
• gnomAD v2: 2-113875753-C-G
• gnomAD v3: 2-113118176-C-G
• gnomAD v4: 2-113118176-C-G
• MyVariant Identifiers: chr2:g.113875753C>G (hg19) ; chr2:g.113118176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113118176C>G , CM000664.2:g.113118176C>G	GRCh38
NC_000002.11:g.113875753C>G , CM000664.1:g.113875753C>G	GRCh37
NC_000002.10:g.113592224C>G	NCBI36
NG_021240.1:g.5284C>G , LRG_188:g.5284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.-272-1890C>G	ENSP00000387210.1:n.-272-1890C>G
ENST00000465812.6:n.775+511C>G
ENST00000696881.1:c.-273+148C>G	ENSP00000512949.1:n.-273+148C>G
ENST00000259206.9:c.10+148C>G	ENSP00000259206.5:n.10+148C>G
ENST00000354115.6:c.10+148C>G	ENSP00000329072.3:n.10+148C>G
ENST00000361779.7:c.-210+148C>G	ENSP00000354816.3:n.-210+148C>G
ENST00000409052.5:c.-272-1890C>G	ENSP00000387210.1:n.-272-1890C>G
ENST00000486167.1:n.48+148C>G
NM_000577.4:c.10+148C>G	NP_000568.1:n.10+148C>G
NM_173841.2:c.10+148C>G , LRG_188t1:c.10+148C>G	NP_776213.1:n.10+148C>G
NM_173843.2:c.-210+148C>G	NP_776215.1:n.-210+148C>G
XM_006712497.2:c.-273+148C>G	XP_006712560.1:n.-273+148C>G
XM_011511121.1:c.-272-1890C>G	XP_011509423.1:n.-272-1890C>G
NM_001318914.1:c.-273+148C>G	NP_001305843.1:n.-273+148C>G
NM_000577.5:c.10+148C>G	NP_000568.1:n.10+148C>G
NM_001318914.2:c.-273+148C>G	NP_001305843.1:n.-273+148C>G
NM_173843.3:c.-210+148C>G	NP_776215.1:n.-210+148C>G
NM_173841.3:c.10+148C>G	NP_776213.1:n.10+148C>G