Canonical Allele Identifier: CA129270

Gene: IL36RN

Linked Data

• ClinVar Variation Id: 30490
• ClinVar RCV Id: RCV000023447 ; RCV000513043 ; RCV002262572 ; RCV002288518 ; RCV003415734
• dbSNP Id: rs144478519
• ExAC: 2:113820124 C / T
• gnomAD v2: 2-113820124-C-T
• gnomAD v3: 2-113062547-C-T
• gnomAD v4: 2-113062547-C-T
• MyVariant Identifiers: chr2:g.113820124C>T (hg19) ; chr2:g.113062547C>T (hg38)
• PubMed: PMID:21839423 ; PMID:23303454 ; PMID:23428889 ; PMID:23648549

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113062547C>T , CM000664.2:g.113062547C>T	GRCh38
NC_000002.11:g.113820124C>T , CM000664.1:g.113820124C>T	GRCh37
NC_000002.10:g.113536595C>T	NCBI36
NG_031864.1:g.8910C>T , LRG_730:g.8910C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000437409.2:c.338C>T	ENSP00000409262.2:p.Ser113Leu
ENST00000393200.7:c.338C>T MANE Select	ENSP00000376896.2:p.Ser113Leu
ENST00000346807.7:c.338C>T	ENSP00000259212.3:p.Ser113Leu
ENST00000393200.6:c.338C>T	ENSP00000376896.2:p.Ser113Leu
ENST00000437409.1:c.338C>T	ENSP00000409262.1:p.Ser113Leu
ENST00000514072.1:c.28C>T
NM_012275.2:c.338C>T , LRG_730t2:c.338C>T	NP_036407.1:p.Ser113Leu
NM_173170.1:c.338C>T , LRG_730t1:c.338C>T	NP_775262.1:p.Ser113Leu
NM_012275.3:c.338C>T MANE Select	NP_036407.1:p.Ser113Leu