Canonical Allele Identifier: CA2198552

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 1156874
• ClinVar RCV Id: RCV001499716
• dbSNP Id: rs139852339
• ExAC: 2:239306117 G / A
• gnomAD v2: 2-239306117-G-A
• gnomAD v3: 2-238397476-G-A
• gnomAD v4: 2-238397476-G-A
• MyVariant Identifiers: chr2:g.239306117G>A (hg19) ; chr2:g.238397476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397476G>A , CM000664.2:g.238397476G>A	GRCh38
NC_000002.11:g.239306117G>A , CM000664.1:g.239306117G>A	GRCh37
NC_000002.10:g.238970856G>A	NCBI36
NG_053055.1:g.81988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1707G>A MANE Select	ENSP00000362424.4:p.Glu569=
ENST00000373327.4:c.1707G>A	ENSP00000362424.4:p.Glu569=
ENST00000391993.7:c.1509G>A	ENSP00000375851.3:p.Glu503=
ENST00000462122.1:n.718G>A
ENST00000483951.1:n.55G>A
NM_001139490.1:c.1509G>A	NP_001132962.1:p.Glu503=
NM_015650.3:c.1707G>A	NP_056465.2:p.Glu569=
XM_006712414.1:c.1506G>A	XP_006712477.1:p.Glu502=
XM_011510944.1:c.1809G>A	XP_011509246.1:p.Glu603=
XM_011510945.1:c.1770G>A	XP_011509247.1:p.Glu590=
XM_011510946.1:c.1737G>A	XP_011509248.1:p.Glu579=
XM_011510947.1:c.1677G>A	XP_011509249.1:p.Glu559=
XM_011510948.1:c.1611G>A	XP_011509250.1:p.Glu537=
XM_011510950.1:c.675G>A	XP_011509252.1:p.Glu225=
XR_922902.1:n.2006G>A
XM_006712414.2:c.1506G>A	XP_006712477.1:p.Glu502=
XM_011510944.2:c.1809G>A	XP_011509246.1:p.Glu603=
XM_011510945.2:c.1770G>A	XP_011509247.1:p.Glu590=
XM_011510946.2:c.1737G>A	XP_011509248.1:p.Glu579=
XM_011510947.2:c.1677G>A	XP_011509249.1:p.Glu559=
XM_011510948.2:c.1611G>A	XP_011509250.1:p.Glu537=
XM_011510950.2:c.675G>A	XP_011509252.1:p.Glu225=
XM_017003789.1:c.1806G>A	XP_016859278.1:p.Glu602=
XR_001738696.1:n.1535G>A
XR_001738697.1:n.1532G>A
XR_922902.2:n.2069G>A
NM_015650.4:c.1707G>A MANE Select	NP_056465.2:p.Glu569=