Canonical Allele Identifier: CA10007011
Gene: IFNGR2 HGNC NCBI
TMEM50B HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.33432704C>T
GRCh37 chr21:g.34805011C>T
gnomAD v2:
21:34805011 C / T
gnomAD v4:
chr21-33432704-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003750003
ClinVar Variation:
2835549
dbSNP:
761096880
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33432704C>T , CM000683.2:g.33432704C>T GRCh38
NC_000021.8:g.34805011C>T , CM000683.1:g.34805011C>T GRCh37
NC_000021.7:g.33726881C>T NCBI36
NG_007570.2:g.52713C>T , LRG_67:g.52713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696724.1:c.713-10C>T (IFNGR2) ENSP00000512835.1:n.713-10C>T
ENST00000290219.11:c.722-10C>T (IFNGR2) MANE Select ENSP00000290219.5:n.722-10C>T
ENST00000290219.10:c.722-10C>T (IFNGR2) ENSP00000290219.5:n.722-10C>T
ENST00000381995.5:c.779-10C>T (IFNGR2) ENSP00000371425.1:n.779-10C>T
ENST00000405436.5:c.485-10C>T (IFNGR2) ENSP00000385044.1:n.485-10C>T
ENST00000420455.5:c.*2219G>A (TMEM50B) ENSP00000397773.1:n.*2219G>A
ENST00000421802.1:c.19-10C>T (IFNGR2)
ENST00000484377.5:n.476G>A (TMEM50B)
ENST00000545369.2:c.*475-10C>T (IFNGR2) ENSP00000442735.2:n.*475-10C>T
NM_005534.3:c.722-10C>T , LRG_67t1:c.722-10C>T (IFNGR2) NP_005525.2:n.722-10C>T
NR_040016.1:n.2909G>A (TMEM50B)
XM_005260969.2:c.779-10C>T (IFNGR2) XP_005261026.1:n.779-10C>T
XM_011529553.1:c.797-10C>T (IFNGR2) XP_011527855.1:n.797-10C>T
XM_011529554.1:c.728-10C>T (IFNGR2) XP_011527856.1:n.728-10C>T
XM_011529746.1:c.*2329G>A (TMEM50B) XP_011528048.1:n.*2329G>A
NM_001329128.1:c.779-10C>T (IFNGR2) NP_001316057.1:n.779-10C>T
XM_011529554.2:c.728-10C>T (IFNGR2) XP_011527856.1:n.728-10C>T
XM_011529746.2:c.*2329G>A (TMEM50B) XP_011528048.1:n.*2329G>A
NM_001329128.2:c.779-10C>T (IFNGR2) NP_001316057.1:n.779-10C>T
NM_005534.4:c.722-10C>T (IFNGR2) MANE Select NP_005525.2:n.722-10C>T
NR_040016.2:n.2874G>A (TMEM50B)
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