Canonical Allele Identifier: CA2198599

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 2052126
• ClinVar RCV Id: RCV002932493
• dbSNP Id: rs753554756
• ExAC: 2:239306300 G / A
• gnomAD v4: 2-238397659-G-A
• MyVariant Identifiers: chr2:g.239306300G>A (hg19) ; chr2:g.238397659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397659G>A , CM000664.2:g.238397659G>A	GRCh38
NC_000002.11:g.239306300G>A , CM000664.1:g.239306300G>A	GRCh37
NC_000002.10:g.238971039G>A	NCBI36
NG_053055.1:g.82171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1890G>A MANE Select	ENSP00000362424.4:p.Glu630=
ENST00000373327.4:c.1890G>A	ENSP00000362424.4:p.Glu630=
ENST00000391993.7:c.1692G>A	ENSP00000375851.3:p.Glu564=
ENST00000462122.1:n.901G>A
ENST00000483951.1:n.238G>A
NM_001139490.1:c.1692G>A	NP_001132962.1:p.Glu564=
NM_015650.3:c.1890G>A	NP_056465.2:p.Glu630=
XM_006712414.1:c.1689G>A	XP_006712477.1:p.Glu563=
XM_011510944.1:c.1992G>A	XP_011509246.1:p.Glu664=
XM_011510945.1:c.1953G>A	XP_011509247.1:p.Glu651=
XM_011510946.1:c.1920G>A	XP_011509248.1:p.Glu640=
XM_011510947.1:c.1860G>A	XP_011509249.1:p.Glu620=
XM_011510948.1:c.1794G>A	XP_011509250.1:p.Glu598=
XM_011510950.1:c.858G>A	XP_011509252.1:p.Glu286=
XM_006712414.2:c.1689G>A	XP_006712477.1:p.Glu563=
XM_011510944.2:c.1992G>A	XP_011509246.1:p.Glu664=
XM_011510945.2:c.1953G>A	XP_011509247.1:p.Glu651=
XM_011510946.2:c.1920G>A	XP_011509248.1:p.Glu640=
XM_011510947.2:c.1860G>A	XP_011509249.1:p.Glu620=
XM_011510948.2:c.1794G>A	XP_011509250.1:p.Glu598=
XM_011510950.2:c.858G>A	XP_011509252.1:p.Glu286=
XM_017003789.1:c.1989G>A	XP_016859278.1:p.Glu663=
XR_001738696.1:n.1718G>A
XR_001738697.1:n.1715G>A
NM_015650.4:c.1890G>A MANE Select	NP_056465.2:p.Glu630=