Canonical Allele Identifier: CA118670
Gene: IFNAR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7288
ClinVar RCV Id: RCV000007711
dbSNP Id: rs2229207

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33241945T>C , CM000683.2:g.33241945T>C GRCh38
NC_000021.8:g.34614250T>C , CM000683.1:g.34614250T>C GRCh37
NC_000021.7:g.33536120T>C NCBI36
NG_016003.1:g.17020T>C
NG_016003.2:g.17020T>C

Transcript Alleles

HGVS Amino-acid change
NM_000874.4:c.23T>C VV NP_000865.2:p.Phe8Ser
NM_001289125.1:c.23T>C VV NP_001276054.1:p.Phe8Ser
NM_001289126.1:c.23T>C VV NP_001276055.1:p.Phe8Ser
NM_001289128.1:c.23T>C VV NP_001276057.1:p.Phe8Ser
NM_207584.2:c.23T>C VV NP_997467.1:p.Phe8Ser
NM_207585.2:c.23T>C VV NP_997468.1:p.Phe8Ser
ENST00000342101.7:c.23T>C ENSP00000343289.3:p.Phe8Ser
ENST00000342136.8:c.23T>C ENSP00000343957.4:p.Phe8Ser
ENST00000382238.6:c.23T>C ENSP00000371673.2:p.Phe8Ser
ENST00000382264.7:c.23T>C ENSP00000371699.3:p.Phe8Ser
ENST00000404220.7:c.23T>C ENSP00000384309.2:p.Phe8Ser
ENST00000413881.5:c.-119-3006T>C ENSP00000413160.1:p.=
ENST00000420068.1:n.295T>C
ENST00000443073.5:c.-119-3006T>C ENSP00000403569.1:p.=
ENST00000447980.1:c.95T>C ENSP00000402311.1:p.Phe32Ser