Canonical Allele Identifier: CA410117735
Community Standard Title: NM_005534.4(IFNGR2):c.503C>T (p.Thr168Ile)
Gene: IFNGR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33426974C>T , CM000683.2:g.33426974C>T GRCh38
NC_000021.8:g.34799281C>T , CM000683.1:g.34799281C>T GRCh37
NC_000021.7:g.33721151C>T NCBI36
NG_007570.2:g.46983C>T , LRG_67:g.46983C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005534.4:c.503C>T MANE Select NP_005525.2:p.Thr168Ile
ENST00000290219.11:c.503C>T MANE Select ENSP00000290219.5:p.Thr168Ile
NM_001329128.1:c.560C>T NP_001316057.1:p.Thr187Ile
NM_001329128.2:c.560C>T NP_001316057.1:p.Thr187Ile
NM_005534.3:c.503C>T , LRG_67t1:c.503C>T NP_005525.2:p.Thr168Ile
ENST00000290219.10:c.503C>T ENSP00000290219.5:p.Thr168Ile
ENST00000381995.5:c.560C>T ENSP00000371425.1:p.Thr187Ile
ENST00000405436.5:c.266C>T ENSP00000385044.1:p.Thr89Ile
ENST00000439213.5:c.*478C>T ENSP00000407541.1:n.*478C>T
ENST00000545369.2:c.*256C>T ENSP00000442735.2:n.*256C>T
ENST00000696724.1:c.494C>T ENSP00000512835.1:p.Thr165Ile
XM_005260969.2:c.560C>T XP_005261026.1:p.Thr187Ile
XM_011529553.1:c.578C>T XP_011527855.1:p.Thr193Ile
XM_011529554.1:c.509C>T XP_011527856.1:p.Thr170Ile
XM_011529554.2:c.509C>T XP_011527856.1:p.Thr170Ile