Canonical Allele Identifier: CA410112719

Gene: IFNGR2 TMEM50B

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33436961G>C , CM000683.2:g.33436961G>C	GRCh38
NC_000021.8:g.34809268G>C , CM000683.1:g.34809268G>C	GRCh37
NC_000021.7:g.33731138G>C	NCBI36
NG_007570.2:g.56970G>C , LRG_67:g.56970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696724.1:c.1004G>C (IFNGR2)	ENSP00000512835.1:p.Ter335Ser
ENST00000290219.11:c.1013G>C (IFNGR2) MANE Select	ENSP00000290219.5:p.Ter338Ser
ENST00000290219.10:c.1013G>C (IFNGR2)	ENSP00000290219.5:p.Ter338Ser
ENST00000381995.5:c.1070G>C (IFNGR2)	ENSP00000371425.1:p.Ter357Ser
ENST00000405436.5:c.776G>C (IFNGR2)	ENSP00000385044.1:p.Ter259Ser
ENST00000420455.5:c.*2120+2253C>G (TMEM50B)	ENSP00000397773.1:n.*2120+2253C>G
ENST00000421802.1:c.176+4090G>C (IFNGR2)
ENST00000468874.2:n.647C>G (TMEM50B)
ENST00000470682.5:n.359+2253C>G (TMEM50B)
ENST00000484377.5:n.299C>G (TMEM50B)
NM_005534.3:c.1013G>C , LRG_67t1:c.1013G>C (IFNGR2)	NP_005525.2:p.Ter338Ser
NR_040016.1:n.2810+2253C>G (TMEM50B)
XM_005260969.2:c.1070G>C (IFNGR2)	XP_005261026.1:p.Ter357Ser
XM_011529553.1:c.1088G>C (IFNGR2)	XP_011527855.1:p.Ter363Ser
XM_011529554.1:c.1019G>C (IFNGR2)	XP_011527856.1:p.Ter340Ser
XM_011529746.1:c.*2152C>G (TMEM50B)	XP_011528048.1:n.*2152C>G
NM_001329128.1:c.1070G>C (IFNGR2)	NP_001316057.1:p.Ter357Ser
XM_011529554.2:c.1019G>C (IFNGR2)	XP_011527856.1:p.Ter340Ser
XM_011529746.2:c.*2152C>G (TMEM50B)	XP_011528048.1:n.*2152C>G
NM_001329128.2:c.1070G>C (IFNGR2)	NP_001316057.1:p.Ter357Ser
NM_005534.4:c.1013G>C (IFNGR2) MANE Select	NP_005525.2:p.Ter338Ser
NR_040016.2:n.2775+2253C>G (TMEM50B)