Canonical Allele Identifier: CA1021939699

Gene: IFNGR2 TMEM50B

Linked Data

• dbSNP Id: rs1798451298
• gnomAD v3: 21-33437291-G-A
• gnomAD v4: 21-33437291-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33437291G>A , CM000683.2:g.33437291G>A	GRCh38
NC_000021.8:g.34809598G>A , CM000683.1:g.34809598G>A	GRCh37
NC_000021.7:g.33731468G>A	NCBI36
NG_007570.2:g.57300G>A , LRG_67:g.57300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696724.1:c.1334G>A (IFNGR2)	ENSP00000512835.1:n.1334G>A
ENST00000290219.11:c.*329G>A (IFNGR2) MANE Select	ENSP00000290219.5:n.*329G>A
ENST00000290219.10:c.*329G>A (IFNGR2)	ENSP00000290219.5:n.*329G>A
ENST00000381995.5:c.*329G>A (IFNGR2)	ENSP00000371425.1:n.*329G>A
ENST00000405436.5:c.*329G>A (IFNGR2)	ENSP00000385044.1:n.*329G>A
ENST00000420455.5:c.*2120+1923C>T (TMEM50B)	ENSP00000397773.1:n.*2120+1923C>T
ENST00000421802.1:c.176+4420G>A (IFNGR2)
ENST00000468874.2:n.616-299C>T (TMEM50B)
ENST00000470682.5:n.359+1923C>T (TMEM50B)
ENST00000484377.5:n.268-299C>T (TMEM50B)
NM_005534.3:c.*329G>A , LRG_67t1:c.*329G>A (IFNGR2)	NP_005525.2:n.*329G>A
NR_040016.1:n.2810+1923C>T (TMEM50B)
XM_005260969.2:c.*329G>A (IFNGR2)	XP_005261026.1:n.*329G>A
XM_011529553.1:c.*329G>A (IFNGR2)	XP_011527855.1:n.*329G>A
XM_011529554.1:c.*329G>A (IFNGR2)	XP_011527856.1:n.*329G>A
XM_011529746.1:c.*2121-299C>T (TMEM50B)	XP_011528048.1:n.*2121-299C>T
NM_001329128.1:c.*329G>A (IFNGR2)	NP_001316057.1:n.*329G>A
XM_011529554.2:c.*329G>A (IFNGR2)	XP_011527856.1:n.*329G>A
XM_011529746.2:c.*2121-299C>T (TMEM50B)	XP_011528048.1:n.*2121-299C>T
NM_001329128.2:c.*329G>A (IFNGR2)	NP_001316057.1:n.*329G>A
NM_005534.4:c.*329G>A (IFNGR2) MANE Select	NP_005525.2:n.*329G>A
NR_040016.2:n.2775+1923C>T (TMEM50B)