Canonical Allele Identifier: CA637663589
Gene: IFNGR2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.33403624del
GRCh37 chr21:g.34775930del
gnomAD v2:
21:34775929 CG / C
gnomAD v4:
chr21-33403623-CG-C
Joint Max Group AF 0.00006023 (SAS)
Exomes Max Group AF 0.0000652 (SAS)
ClinVar Allele:
2977218
ClinVar RCV:
RCV003749542
ClinVar Variation:
2817407
dbSNP:
1324112986
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33403626del , CM000683.2:g.33403626del GRCh38
NC_000021.8:g.34775932del , CM000683.1:g.34775932del GRCh37
NC_000021.7:g.33697802del NCBI36
NG_007570.2:g.23634del , LRG_67:g.23634del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290219.11:c.73+10del MANE Select ENSP00000290219.5:n.73+10del
ENST00000290219.10:c.73+10del ENSP00000290219.5:n.73+10del
ENST00000381995.5:c.73+10del ENSP00000371425.1:n.73+10del
ENST00000405436.5:c.-217+10del ENSP00000385044.1:n.-217+10del
ENST00000439213.5:c.73+10del ENSP00000407541.1:n.73+10del
ENST00000545369.2:c.73+10del ENSP00000442735.2:n.73+10del
NM_005534.3:c.73+10del , LRG_67t1:c.73+10del NP_005525.2:n.73+10del
XM_005260969.2:c.73+10del XP_005261026.1:n.73+10del
NM_001329128.1:c.73+10del NP_001316057.1:n.73+10del
NM_001329128.2:c.73+10del NP_001316057.1:n.73+10del
NM_005534.4:c.73+10del MANE Select NP_005525.2:n.73+10del
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