Canonical Allele Identifier: CA2197964
Gene: TRAF3IP1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.238325351G>A
GRCh37 chr2:g.239233992G>A
Revel Score:
ENST00000391993 0.450
ENST00000373327 (MANE Select) 0.450
ENST00000391994 0.450
ENST00000440998 0.450
gnomAD v2:
2:239233992 G / A
gnomAD v3:
2:238325351 G / A
gnomAD v4:
chr2-238325351-G-A
Joint Max Group AF 0.00005381 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00005597 (NFE)
ClinVar RCV:
RCV000516088
ClinVar Variation:
446655
dbSNP:
769651861
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238325351G>A , CM000664.2:g.238325351G>A GRCh38
NC_000002.11:g.239233992G>A , CM000664.1:g.239233992G>A GRCh37
NC_000002.10:g.238898731G>A NCBI36
NG_053055.1:g.9863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373327.5:c.169G>A MANE Select ENSP00000362424.4:p.Glu57Lys
ENST00000373327.4:c.169G>A ENSP00000362424.4:p.Glu57Lys
ENST00000391993.7:c.169G>A ENSP00000375851.3:p.Glu57Lys
ENST00000409739.2:c.*38G>A ENSP00000386648.2:n.*38G>A
NM_001139490.1:c.169G>A NP_001132962.1:p.Glu57Lys
NM_015650.3:c.169G>A NP_056465.2:p.Glu57Lys
XM_006712414.1:c.169G>A XP_006712477.1:p.Glu57Lys
XM_011510944.1:c.169G>A XP_011509246.1:p.Glu57Lys
XM_011510945.1:c.169G>A XP_011509247.1:p.Glu57Lys
XM_011510946.1:c.169G>A XP_011509248.1:p.Glu57Lys
XM_011510947.1:c.37G>A XP_011509249.1:p.Glu13Lys
XM_011510948.1:c.169G>A XP_011509250.1:p.Glu57Lys
XM_011510949.1:c.169G>A XP_011509251.1:p.Glu57Lys
XR_922902.1:n.280G>A
XM_006712414.2:c.169G>A XP_006712477.1:p.Glu57Lys
XM_011510944.2:c.169G>A XP_011509246.1:p.Glu57Lys
XM_011510945.2:c.169G>A XP_011509247.1:p.Glu57Lys
XM_011510946.2:c.169G>A XP_011509248.1:p.Glu57Lys
XM_011510947.2:c.37G>A XP_011509249.1:p.Glu13Lys
XM_011510948.2:c.169G>A XP_011509250.1:p.Glu57Lys
XM_017003789.1:c.169G>A XP_016859278.1:p.Glu57Lys
XR_001738696.1:n.343G>A
XR_001738697.1:n.343G>A
XR_922902.2:n.343G>A
NM_015650.4:c.169G>A MANE Select NP_056465.2:p.Glu57Lys
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