Canonical Allele Identifier: CA10007029
Community Standard Title: NM_005534.4(IFNGR2):c.879+5G>A
Gene: IFNGR2 HGNC NCBI
TMEM50B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33432876G>A , CM000683.2:g.33432876G>A GRCh38
NC_000021.8:g.34805183G>A , CM000683.1:g.34805183G>A GRCh37
NC_000021.7:g.33727053G>A NCBI36
NG_007570.2:g.52885G>A , LRG_67:g.52885G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005534.4:c.879+5G>A (IFNGR2) MANE Select NP_005525.2:n.879+5G>A
ENST00000290219.11:c.879+5G>A (IFNGR2) MANE Select ENSP00000290219.5:n.879+5G>A
NM_001329128.1:c.936+5G>A (IFNGR2) NP_001316057.1:n.936+5G>A
NM_001329128.2:c.936+5G>A (IFNGR2) NP_001316057.1:n.936+5G>A
NM_005534.3:c.879+5G>A , LRG_67t1:c.879+5G>A (IFNGR2) NP_005525.2:n.879+5G>A
NR_040016.1:n.2811-74C>T (TMEM50B)
NR_040016.2:n.2776-74C>T (TMEM50B)
ENST00000290219.10:c.879+5G>A (IFNGR2) ENSP00000290219.5:n.879+5G>A
ENST00000381995.5:c.936+5G>A (IFNGR2) ENSP00000371425.1:n.936+5G>A
ENST00000405436.5:c.642+5G>A (IFNGR2) ENSP00000385044.1:n.642+5G>A
ENST00000420455.5:c.*2121-74C>T (TMEM50B) ENSP00000397773.1:n.*2121-74C>T
ENST00000421802.1:c.176+5G>A (IFNGR2)
ENST00000470682.5:n.360-74C>T (TMEM50B)
ENST00000484377.5:n.378-74C>T (TMEM50B)
ENST00000545369.2:c.*632+5G>A (IFNGR2) ENSP00000442735.2:n.*632+5G>A
ENST00000696724.1:c.870+5G>A (IFNGR2) ENSP00000512835.1:n.870+5G>A
XM_005260969.2:c.936+5G>A (IFNGR2) XP_005261026.1:n.936+5G>A
XM_011529553.1:c.954+5G>A (IFNGR2) XP_011527855.1:n.954+5G>A
XM_011529554.1:c.885+5G>A (IFNGR2) XP_011527856.1:n.885+5G>A
XM_011529554.2:c.885+5G>A (IFNGR2) XP_011527856.1:n.885+5G>A
XM_011529746.1:c.*2231-74C>T (TMEM50B) XP_011528048.1:n.*2231-74C>T
XM_011529746.2:c.*2231-74C>T (TMEM50B) XP_011528048.1:n.*2231-74C>T