Canonical Allele Identifier: CA53692982

Gene: IL1RN

Linked Data

• ClinVar Variation Id: 444516
• ClinVar RCV Id: RCV000512716
• dbSNP Id: rs112879651
• gnomAD v4: 2-113127686-C-G
• COSMIC: COSM4582584 ; COSM4582585
• MyVariant Identifiers: chr2:g.113885263C>G (hg19) ; chr2:g.113127686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113127686C>G , CM000664.2:g.113127686C>G	GRCh38
NC_000002.11:g.113885263C>G , CM000664.1:g.113885263C>G	GRCh37
NC_000002.10:g.113601734C>G	NCBI36
NG_021240.1:g.14794C>G , LRG_188:g.14794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.-38-3C>G	ENSP00000387210.1:n.-38-3C>G
ENST00000696879.1:c.-38-3C>G	ENSP00000512947.1:n.-38-3C>G
ENST00000696881.1:c.-38-3C>G	ENSP00000512949.1:n.-38-3C>G
ENST00000696882.1:c.-41C>G	ENSP00000512950.1:n.-41C>G
ENST00000409930.4:c.62C>G MANE Select	ENSP00000387173.3:p.Ser21Ter
ENST00000259206.9:c.74-3C>G	ENSP00000259206.5:n.74-3C>G
ENST00000354115.6:c.11-3C>G	ENSP00000329072.3:n.11-3C>G
ENST00000361779.7:c.-38-3C>G	ENSP00000354816.3:n.-38-3C>G
ENST00000409052.5:c.-38-3C>G	ENSP00000387210.1:n.-38-3C>G
ENST00000409930.3:c.62C>G	ENSP00000387173.3:p.Ser21Ter
ENST00000472292.1:n.111C>G
ENST00000486167.1:n.49-3C>G
NM_000577.4:c.11-3C>G	NP_000568.1:n.11-3C>G
NM_173841.2:c.74-3C>G , LRG_188t1:c.74-3C>G	NP_776213.1:n.74-3C>G
NM_173842.2:c.62C>G	NP_776214.1:p.Ser21Ter
NM_173843.2:c.-38-3C>G	NP_776215.1:n.-38-3C>G
XM_005263661.3:c.-38-3C>G	XP_005263718.1:n.-38-3C>G
XM_006712497.2:c.-38-3C>G	XP_006712560.1:n.-38-3C>G
XM_011511121.1:c.-38-3C>G	XP_011509423.1:n.-38-3C>G
NM_001318914.1:c.-38-3C>G	NP_001305843.1:n.-38-3C>G
XM_005263661.4:c.-38-3C>G	XP_005263718.1:n.-38-3C>G
NM_000577.5:c.11-3C>G	NP_000568.1:n.11-3C>G
NM_001318914.2:c.-38-3C>G	NP_001305843.1:n.-38-3C>G
NM_173842.3:c.62C>G MANE Select	NP_776214.1:p.Ser21Ter
NM_173843.3:c.-38-3C>G	NP_776215.1:n.-38-3C>G
NM_001379360.1:c.-38-3C>G	NP_001366289.1:n.-38-3C>G
NM_173841.3:c.74-3C>G	NP_776213.1:n.74-3C>G