Canonical Allele Identifier: CA320134922
Gene: IFNGR2 HGNC NCBI

Linked Data

dbSNP Id: rs2268241
gnomAD v3: 21-33408744-G-A
gnomAD v4: 21-33408744-G-A
MyVariant Identifiers: chr21:g.33408744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33408744G>A , CM000683.2:g.33408744G>A GRCh38
NC_000021.7:g.33702920G>A NCBI36
NG_007570.2:g.28752G>A , LRG_67:g.28752G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290219.11:c.73+5128G>A MANE Select ENSP00000290219.5:n.73+5128G>A
ENST00000290219.10:c.73+5128G>A ENSP00000290219.5:n.73+5128G>A
ENST00000381995.5:c.74-2092G>A ENSP00000371425.1:n.74-2092G>A
ENST00000405436.5:c.-216-2097G>A ENSP00000385044.1:n.-216-2097G>A
ENST00000439213.5:c.74-2092G>A ENSP00000407541.1:n.74-2092G>A
ENST00000545369.2:c.73+5128G>A ENSP00000442735.2:n.73+5128G>A
NM_005534.3:c.73+5128G>A , LRG_67t1:c.73+5128G>A NP_005525.2:n.73+5128G>A
XM_005260969.2:c.74-2092G>A XP_005261026.1:n.74-2092G>A
NM_001329128.1:c.74-2092G>A NP_001316057.1:n.74-2092G>A
NM_001329128.2:c.74-2092G>A NP_001316057.1:n.74-2092G>A
NM_005534.4:c.73+5128G>A MANE Select NP_005525.2:n.73+5128G>A
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