Canonical Allele Identifier: CA14870356
Gene: IFNGR2 HGNC NCBI
TMEM50B HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1059293

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33437386C>T , CM000683.2:g.33437386C>T GRCh38
NC_000021.8:g.34809693C>T , CM000683.1:g.34809693C>T GRCh37
NC_000021.7:g.33731563C>T NCBI36
NG_007570.2:g.57395C>T , LRG_67:g.57395C>T

Transcript Alleles

HGVS Amino-acid change
NM_005534.3:c.*424C>T , LRG_67t1:c.*424C>T (IFNGR2) NP_005525.2:p.=
NR_040016.1:n.2810+1828G>A (TMEM50B)
XM_005260969.2:c.*424C>T (IFNGR2) XP_005261026.1:p.=
XM_011529553.1:c.*424C>T (IFNGR2) XP_011527855.1:p.=
XM_011529554.1:c.*424C>T (IFNGR2) XP_011527856.1:p.=
XM_011529746.1:c.*2121-394G>A (TMEM50B) XP_011528048.1:p.=
NM_001329128.1:c.*424C>T (IFNGR2) VV NP_001316057.1:p.=
XM_011529554.2:c.*424C>T (IFNGR2)
XM_011529746.2:c.*2121-394G>A (TMEM50B)
ENST00000290219.10:c.*424C>T ENSP00000290219.5:p.=
ENST00000381995.5:c.*424C>T ENSP00000371425.1:p.=
ENST00000405436.5:c.*424C>T ENSP00000385044.1:p.=
ENST00000420455.5:c.*2120+1828G>A ENSP00000397773.1:p.=
ENST00000421802.1:n.176+4515C>T
ENST00000468874.2:n.616-394G>A
ENST00000470682.5:n.359+1828G>A
ENST00000484377.5:n.268-394G>A