Canonical Allele Identifier: CA1838694

Gene: IL1RN

Linked Data

• ClinVar Variation Id: 330821
• ClinVar RCV Id: RCV000454566 ; RCV000309920 ; RCV001618583
• dbSNP Id: rs2234679
• ExAC: 2:113875584 G / C
• gnomAD v2: 2-113875584-G-C
• gnomAD v3: 2-113118007-G-C
• gnomAD v4: 2-113118007-G-C
• MyVariant Identifiers: chr2:g.113875584G>C (hg19) ; chr2:g.113118007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113118007G>C , CM000664.2:g.113118007G>C	GRCh38
NC_000002.11:g.113875584G>C , CM000664.1:g.113875584G>C	GRCh37
NC_000002.10:g.113592055G>C	NCBI36
NG_021240.1:g.5115G>C , LRG_188:g.5115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.-272-2059G>C	ENSP00000387210.1:n.-272-2059G>C
ENST00000465812.6:n.775+342G>C
ENST00000696881.1:c.-294G>C	ENSP00000512949.1:n.-294G>C
ENST00000259206.9:c.-12G>C	ENSP00000259206.5:n.-12G>C
ENST00000354115.6:c.-12G>C	ENSP00000329072.3:n.-12G>C
ENST00000361779.7:c.-231G>C	ENSP00000354816.3:n.-231G>C
ENST00000409052.5:c.-272-2059G>C	ENSP00000387210.1:n.-272-2059G>C
ENST00000486167.1:n.27G>C
NM_000577.4:c.-12G>C	NP_000568.1:n.-12G>C
NM_173841.2:c.-12G>C , LRG_188t1:c.-12G>C	NP_776213.1:n.-12G>C
NM_173843.2:c.-231G>C	NP_776215.1:n.-231G>C
XM_006712497.2:c.-294G>C	XP_006712560.1:n.-294G>C
XM_011511121.1:c.-272-2059G>C	XP_011509423.1:n.-272-2059G>C
NM_001318914.1:c.-294G>C	NP_001305843.1:n.-294G>C
NM_000577.5:c.-12G>C	NP_000568.1:n.-12G>C
NM_001318914.2:c.-294G>C	NP_001305843.1:n.-294G>C
NM_173843.3:c.-231G>C	NP_776215.1:n.-231G>C
NM_173841.3:c.-12G>C	NP_776213.1:n.-12G>C