Canonical Allele Identifier: CA394793734
Gene: TNFRSF17 HGNC NCBI
NPIPB2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11966306A>T , CM000678.2:g.11966306A>T GRCh38
NC_000016.9:g.12060163A>T , CM000678.1:g.12060163A>T GRCh37
NC_000016.8:g.11967664A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000053243.6:c.242A>T (TNFRSF17) MANE Select ENSP00000053243.1:p.Asn81Ile
ENST00000673243.1:c.-536-2280T>A (NPIPB2) ENSP00000500799.1:n.-536-2280T>A
ENST00000053243.5:c.242A>T (TNFRSF17) ENSP00000053243.1:p.Asn81Ile
ENST00000396495.3:c.130+852A>T (TNFRSF17) ENSP00000379753.3:n.130+852A>T
ENST00000532936.1:n.77-2280T>A (NPIPB2)
ENST00000538896.5:c.-584+10262T>A (NPIPB2) ENSP00000442069.1:n.-584+10262T>A
ENST00000562385.1:c.217A>T (TNFRSF17)
NM_001192.2:c.242A>T (TNFRSF17) NP_001183.2:p.Asn81Ile
XM_024450428.1:c.-400-10069T>A (NPIPB2) XP_024306196.1:n.-400-10069T>A
NM_001192.3:c.242A>T (TNFRSF17) MANE Select NP_001183.2:p.Asn81Ile
NM_001395852.1:c.-536-2280T>A (NPIPB2) NP_001382781.1:n.-536-2280T>A
NM_001395853.1:c.-400-10069T>A (NPIPB2) NP_001382782.1:n.-400-10069T>A
NM_001395854.1:c.-536-2280T>A (NPIPB2) NP_001382783.1:n.-536-2280T>A
NM_001395855.1:c.-400-10069T>A (NPIPB2) NP_001382784.1:n.-400-10069T>A