Canonical Allele Identifier: CA10005503

Gene: IFNAR2

Linked Data

• dbSNP Id: rs777547168
• ExAC: 21:34614279 A / C
• gnomAD v2: 21-34614279-A-C
• gnomAD v4: 21-33241974-A-C
• MyVariant Identifiers: chr21:g.34614279A>C (hg19) ; chr21:g.33241974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33241974A>C , CM000683.2:g.33241974A>C	GRCh38
NC_000021.8:g.34614279A>C , CM000683.1:g.34614279A>C	GRCh37
NC_000021.7:g.33536149A>C	NCBI36
NG_016003.1:g.17049A>C
NG_016003.2:g.17049A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433395.7:c.52A>C	ENSP00000388223.3:p.Met18Leu
ENST00000700427.1:n.262A>C
ENST00000700429.1:n.286A>C
ENST00000682009.1:c.52A>C	ENSP00000506919.1:p.Met18Leu
ENST00000683116.1:c.52A>C	ENSP00000508125.1:p.Met18Leu
ENST00000683941.1:c.52A>C	ENSP00000508013.1:p.Met18Leu
ENST00000342136.9:c.52A>C MANE Select	ENSP00000343957.5:p.Met18Leu
ENST00000646150.1:c.52A>C	ENSP00000496248.1:p.Met18Leu
ENST00000342101.7:c.52A>C	ENSP00000343289.3:p.Met18Leu
ENST00000342136.8:c.52A>C	ENSP00000343957.4:p.Met18Leu
ENST00000382238.6:c.52A>C	ENSP00000371673.2:p.Met18Leu
ENST00000382264.7:c.52A>C	ENSP00000371699.3:p.Met18Leu
ENST00000404220.7:c.52A>C	ENSP00000384309.2:p.Met18Leu
ENST00000413881.5:c.-119-2977A>C	ENSP00000413160.1:n.-119-2977A>C
ENST00000420068.1:n.324A>C
ENST00000443073.5:c.-119-2977A>C	ENSP00000403569.1:n.-119-2977A>C
ENST00000447980.1:c.124A>C	ENSP00000402311.1:p.Met42Leu
NM_000874.4:c.52A>C	NP_000865.2:p.Met18Leu
NM_001289125.1:c.52A>C	NP_001276054.1:p.Met18Leu
NM_001289126.1:c.52A>C	NP_001276055.1:p.Met18Leu
NM_001289128.1:c.52A>C	NP_001276057.1:p.Met18Leu
NM_207584.2:c.52A>C	NP_997467.1:p.Met18Leu
NM_207585.2:c.52A>C	NP_997468.1:p.Met18Leu
NM_000874.5:c.52A>C	NP_000865.2:p.Met18Leu
NM_001289125.3:c.52A>C MANE Select	NP_001276054.1:p.Met18Leu
NM_207584.3:c.52A>C	NP_997467.1:p.Met18Leu
NM_001289126.2:c.52A>C	NP_001276055.1:p.Met18Leu
NM_001289128.2:c.52A>C	NP_001276057.1:p.Met18Leu
NM_001385054.1:c.52A>C	NP_001371983.1:p.Met18Leu
NM_001385055.1:c.52A>C	NP_001371984.1:p.Met18Leu
NM_207585.3:c.52A>C	NP_997468.1:p.Met18Leu