Canonical Allele Identifier: CA129270
Gene: IL36RN HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.113062547C>T
GRCh37 chr2:g.113820124C>T
Revel Score:
ENST00000346807 0.319
ENST00000393200 (MANE Select) 0.319
ENST00000437409 0.319
gnomAD v2:
2:113820124 C / T
gnomAD v3:
2:113062547 C / T
gnomAD v4:
chr2-113062547-C-T
Joint Max Group AF 0.00381995 (NFE)
Genomes Max Group AF 0.00327364 (NFE)
Exomes Max Group AF 0.00383336 (NFE)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'