Canonical Allele Identifier: CA754260933

Gene: IL1R2

Linked Data

• dbSNP Id: rs1312452340
• gnomAD v3: 2-101994269-G-C
• gnomAD v4: 2-101994269-G-C
• MyVariant Identifiers: chr2:g.102610731G>C (hg19) ; chr2:g.101994269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101994269G>C , CM000664.2:g.101994269G>C	GRCh38
NC_000002.11:g.102610731G>C , CM000664.1:g.102610731G>C	GRCh37
NC_000002.10:g.101977163G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332549.8:c.-62+2258G>C MANE Select	ENSP00000330959.3:n.-62+2258G>C
ENST00000332549.7:c.-62+2258G>C	ENSP00000330959.3:n.-62+2258G>C
ENST00000464994.5:n.74+2236G>C
ENST00000493749.1:n.52+2258G>C
NM_001261419.1:c.-62+2258G>C	NP_001248348.1:n.-62+2258G>C
NM_004633.3:c.-62+2258G>C	NP_004624.1:n.-62+2258G>C
XM_006712734.2:c.-62+2273G>C	XP_006712797.1:n.-62+2273G>C
XM_006712736.2:c.14+2236G>C	XP_006712799.1:n.14+2236G>C
XM_006712734.3:c.-62+2273G>C	XP_006712797.1:n.-62+2273G>C
XM_006712736.3:c.14+2236G>C	XP_006712799.1:n.14+2236G>C
XM_017004889.1:c.-189+2258G>C	XP_016860378.1:n.-189+2258G>C
XM_024453129.1:c.-157+2273G>C	XP_024308897.1:n.-157+2273G>C
NM_004633.4:c.-62+2258G>C MANE Select	NP_004624.1:n.-62+2258G>C
NM_001261419.2:c.-62+2258G>C	NP_001248348.1:n.-62+2258G>C