Canonical Allele Identifier: CA410093736

Gene: IFNAR2

Linked Data

• gnomAD v4: 21-33241944-T-C
• MyVariant Identifiers: chr21:g.34614249T>C (hg19) ; chr21:g.33241944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33241944T>C , CM000683.2:g.33241944T>C	GRCh38
NC_000021.8:g.34614249T>C , CM000683.1:g.34614249T>C	GRCh37
NC_000021.7:g.33536119T>C	NCBI36
NG_016003.1:g.17019T>C
NG_016003.2:g.17019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433395.7:c.22T>C	ENSP00000388223.3:p.Phe8Leu
ENST00000700427.1:n.232T>C
ENST00000700429.1:n.256T>C
ENST00000682009.1:c.22T>C	ENSP00000506919.1:p.Phe8Leu
ENST00000683116.1:c.22T>C	ENSP00000508125.1:p.Phe8Leu
ENST00000683941.1:c.22T>C	ENSP00000508013.1:p.Phe8Leu
ENST00000342136.9:c.22T>C MANE Select	ENSP00000343957.5:p.Phe8Leu
ENST00000646150.1:c.22T>C	ENSP00000496248.1:p.Phe8Leu
ENST00000342101.7:c.22T>C	ENSP00000343289.3:p.Phe8Leu
ENST00000342136.8:c.22T>C	ENSP00000343957.4:p.Phe8Leu
ENST00000382238.6:c.22T>C	ENSP00000371673.2:p.Phe8Leu
ENST00000382264.7:c.22T>C	ENSP00000371699.3:p.Phe8Leu
ENST00000404220.7:c.22T>C	ENSP00000384309.2:p.Phe8Leu
ENST00000413881.5:c.-119-3007T>C	ENSP00000413160.1:n.-119-3007T>C
ENST00000420068.1:n.294T>C
ENST00000443073.5:c.-119-3007T>C	ENSP00000403569.1:n.-119-3007T>C
ENST00000447980.1:c.94T>C	ENSP00000402311.1:p.Phe32Leu
NM_000874.4:c.22T>C	NP_000865.2:p.Phe8Leu
NM_001289125.1:c.22T>C	NP_001276054.1:p.Phe8Leu
NM_001289126.1:c.22T>C	NP_001276055.1:p.Phe8Leu
NM_001289128.1:c.22T>C	NP_001276057.1:p.Phe8Leu
NM_207584.2:c.22T>C	NP_997467.1:p.Phe8Leu
NM_207585.2:c.22T>C	NP_997468.1:p.Phe8Leu
NM_000874.5:c.22T>C	NP_000865.2:p.Phe8Leu
NM_001289125.3:c.22T>C MANE Select	NP_001276054.1:p.Phe8Leu
NM_207584.3:c.22T>C	NP_997467.1:p.Phe8Leu
NM_001289126.2:c.22T>C	NP_001276055.1:p.Phe8Leu
NM_001289128.2:c.22T>C	NP_001276057.1:p.Phe8Leu
NM_001385054.1:c.22T>C	NP_001371983.1:p.Phe8Leu
NM_001385055.1:c.22T>C	NP_001371984.1:p.Phe8Leu
NM_207585.3:c.22T>C	NP_997468.1:p.Phe8Leu