Canonical Allele Identifier: CA130699

Gene: IL36RN

Linked Data

• ClinVar Variation Id: 40005
• ClinVar RCV Id: RCV000033132 ; RCV002262597 ; RCV002508136 ; RCV003914894
• dbSNP Id: rs148755083
• ExAC: 2:113818520 T / C
• gnomAD v2: 2-113818520-T-C
• gnomAD v3: 2-113060943-T-C
• gnomAD v4: 2-113060943-T-C
• MyVariant Identifiers: chr2:g.113818520T>C (hg19) ; chr2:g.113060943T>C (hg38)
• PubMed: PMID:22428995 ; PMID:22903787 ; PMID:23303454 ; PMID:23863864

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113060943T>C , CM000664.2:g.113060943T>C	GRCh38
NC_000002.11:g.113818520T>C , CM000664.1:g.113818520T>C	GRCh37
NC_000002.10:g.113534991T>C	NCBI36
NG_031864.1:g.7306T>C , LRG_730:g.7306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437409.2:c.115+6T>C	ENSP00000409262.2:n.115+6T>C
ENST00000393200.7:c.115+6T>C MANE Select	ENSP00000376896.2:n.115+6T>C
ENST00000346807.7:c.115+6T>C	ENSP00000259212.3:n.115+6T>C
ENST00000393200.6:c.115+6T>C	ENSP00000376896.2:n.115+6T>C
ENST00000437409.1:c.115+6T>C	ENSP00000409262.1:n.115+6T>C
NM_012275.2:c.115+6T>C , LRG_730t2:c.115+6T>C	NP_036407.1:n.115+6T>C
NM_173170.1:c.115+6T>C , LRG_730t1:c.115+6T>C	NP_775262.1:n.115+6T>C
NM_012275.3:c.115+6T>C MANE Select	NP_036407.1:n.115+6T>C