Canonical Allele Identifier: CA7907917
Gene: TNFRSF17 HGNC NCBI
NPIPB2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.11966306A>G
GRCh37 chr16:g.12060163A>G
Revel Score:
ENST00000053243 (MANE Select) 0.004
ENST00000435355 0.004
gnomAD v2:
16:12060163 A / G
gnomAD v3:
16:11966306 A / G
gnomAD v4:
chr16-11966306-A-G
Joint Max Group AF 0.99160368 (EAS)
Genomes Max Group AF 0.98108917 (NFE)
Exomes Max Group AF 0.99112904 (EAS)
dbSNP:
373496
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000053243.6:c.242A>G (TNFRSF17) MANE Select ENSP00000053243.1:p.Asn81Ser
ENST00000673243.1:c.-536-2280T>C (NPIPB2) ENSP00000500799.1:n.-536-2280T>C
ENST00000053243.5:c.242A>G (TNFRSF17) ENSP00000053243.1:p.Asn81Ser
ENST00000396495.3:c.130+852A>G (TNFRSF17) ENSP00000379753.3:n.130+852A>G
ENST00000532936.1:n.77-2280T>C (NPIPB2)
ENST00000538896.5:c.-584+10262T>C (NPIPB2) ENSP00000442069.1:n.-584+10262T>C
ENST00000562385.1:c.217A>G (TNFRSF17)
NM_001192.2:c.242A>G (TNFRSF17) NP_001183.2:p.Asn81Ser
XM_024450428.1:c.-400-10069T>C (NPIPB2) XP_024306196.1:n.-400-10069T>C
NM_001192.3:c.242A>G (TNFRSF17) MANE Select NP_001183.2:p.Asn81Ser
NM_001395852.1:c.-536-2280T>C (NPIPB2) NP_001382781.1:n.-536-2280T>C
NM_001395853.1:c.-400-10069T>C (NPIPB2) NP_001382782.1:n.-400-10069T>C
NM_001395854.1:c.-536-2280T>C (NPIPB2) NP_001382783.1:n.-536-2280T>C
NM_001395855.1:c.-400-10069T>C (NPIPB2) NP_001382784.1:n.-400-10069T>C
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