Canonical Allele Identifier: CA1838875

Gene: IL1RN

Linked Data

• dbSNP Id: rs757992723
• ExAC: 2:113890242 A / C
• gnomAD v2: 2-113890242-A-C
• gnomAD v3: 2-113132665-A-C
• gnomAD v4: 2-113132665-A-C
• MyVariant Identifiers: chr2:g.113890242A>C (hg19) ; chr2:g.113132665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113132665A>C , CM000664.2:g.113132665A>C	GRCh38
NC_000002.11:g.113890242A>C , CM000664.1:g.113890242A>C	GRCh37
NC_000002.10:g.113606713A>C	NCBI36
NG_021240.1:g.19773A>C , LRG_188:g.19773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.226A>C	ENSP00000387210.1:p.Ile76Leu
ENST00000696879.1:c.226A>C	ENSP00000512947.1:p.Ile76Leu
ENST00000696880.1:c.226A>C	ENSP00000512948.1:p.Ile76Leu
ENST00000696881.1:c.226A>C	ENSP00000512949.1:p.Ile76Leu
ENST00000696882.1:c.*98A>C	ENSP00000512950.1:n.*98A>C
ENST00000696883.1:n.273A>C
ENST00000409930.4:c.328A>C MANE Select	ENSP00000387173.3:p.Ile110Leu
ENST00000259206.9:c.337A>C	ENSP00000259206.5:p.Ile113Leu
ENST00000354115.6:c.274A>C	ENSP00000329072.3:p.Ile92Leu
ENST00000361779.7:c.226A>C	ENSP00000354816.3:p.Ile76Leu
ENST00000409052.5:c.226A>C	ENSP00000387210.1:p.Ile76Leu
ENST00000409930.3:c.328A>C	ENSP00000387173.3:p.Ile110Leu
NM_000577.4:c.274A>C	NP_000568.1:p.Ile92Leu
NM_173841.2:c.337A>C , LRG_188t1:c.337A>C	NP_776213.1:p.Ile113Leu
NM_173842.2:c.328A>C	NP_776214.1:p.Ile110Leu
NM_173843.2:c.226A>C	NP_776215.1:p.Ile76Leu
XM_005263661.3:c.226A>C	XP_005263718.1:p.Ile76Leu
XM_006712497.2:c.226A>C	XP_006712560.1:p.Ile76Leu
XM_011511121.1:c.226A>C	XP_011509423.1:p.Ile76Leu
NM_001318914.1:c.226A>C	NP_001305843.1:p.Ile76Leu
XM_005263661.4:c.226A>C	XP_005263718.1:p.Ile76Leu
NM_000577.5:c.274A>C	NP_000568.1:p.Ile92Leu
NM_001318914.2:c.226A>C	NP_001305843.1:p.Ile76Leu
NM_173842.3:c.328A>C MANE Select	NP_776214.1:p.Ile110Leu
NM_173843.3:c.226A>C	NP_776215.1:p.Ile76Leu
NM_001379360.1:c.226A>C	NP_001366289.1:p.Ile76Leu
NM_173841.3:c.337A>C	NP_776213.1:p.Ile113Leu