Canonical Allele Identifier: CA10007073

Gene: IFNGR2 TMEM50B

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33436866G>A , CM000683.2:g.33436866G>A	GRCh38
NC_000021.8:g.34809173G>A , CM000683.1:g.34809173G>A	GRCh37
NC_000021.7:g.33731043G>A	NCBI36
NG_007570.2:g.56875G>A , LRG_67:g.56875G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005534.4:c.918G>A (IFNGR2) MANE Select	NP_005525.2:p.Leu306=
ENST00000290219.11:c.918G>A (IFNGR2) MANE Select	ENSP00000290219.5:p.Leu306=
NM_001329128.1:c.975G>A (IFNGR2)	NP_001316057.1:p.Leu325=
NM_001329128.2:c.975G>A (IFNGR2)	NP_001316057.1:p.Leu325=
NM_005534.3:c.918G>A , LRG_67t1:c.918G>A (IFNGR2)	NP_005525.2:p.Leu306=
NR_040016.1:n.2810+2348C>T (TMEM50B)
NR_040016.2:n.2775+2348C>T (TMEM50B)
ENST00000290219.10:c.918G>A (IFNGR2)	ENSP00000290219.5:p.Leu306=
ENST00000381995.5:c.975G>A (IFNGR2)	ENSP00000371425.1:p.Leu325=
ENST00000405436.5:c.681G>A (IFNGR2)	ENSP00000385044.1:p.Leu227=
ENST00000420455.5:c.*2120+2348C>T (TMEM50B)	ENSP00000397773.1:n.*2120+2348C>T
ENST00000421802.1:c.176+3995G>A (IFNGR2)
ENST00000470682.5:n.359+2348C>T (TMEM50B)
ENST00000484377.5:n.377+17C>T (TMEM50B)
ENST00000545369.2:c.*671G>A (IFNGR2)	ENSP00000442735.2:n.*671G>A
ENST00000696724.1:c.909G>A (IFNGR2)	ENSP00000512835.1:p.Leu303=
XM_005260969.2:c.975G>A (IFNGR2)	XP_005261026.1:p.Leu325=
XM_011529553.1:c.993G>A (IFNGR2)	XP_011527855.1:p.Leu331=
XM_011529554.1:c.924G>A (IFNGR2)	XP_011527856.1:p.Leu308=
XM_011529554.2:c.924G>A (IFNGR2)	XP_011527856.1:p.Leu308=
XM_011529746.1:c.*2230+17C>T (TMEM50B)	XP_011528048.1:n.*2230+17C>T
XM_011529746.2:c.*2230+17C>T (TMEM50B)	XP_011528048.1:n.*2230+17C>T