Canonical Allele Identifier: CA351245812

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 1942156
• ClinVar RCV Id: RCV002646658
• gnomAD v4: 2-238397481-C-G
• MyVariant Identifiers: chr2:g.239306122C>G (hg19) ; chr2:g.238397481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397481C>G , CM000664.2:g.238397481C>G	GRCh38
NC_000002.11:g.239306122C>G , CM000664.1:g.239306122C>G	GRCh37
NC_000002.10:g.238970861C>G	NCBI36
NG_053055.1:g.81993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1712C>G MANE Select	ENSP00000362424.4:p.Ala571Gly
ENST00000373327.4:c.1712C>G	ENSP00000362424.4:p.Ala571Gly
ENST00000391993.7:c.1514C>G	ENSP00000375851.3:p.Ala505Gly
ENST00000462122.1:n.723C>G
ENST00000483951.1:n.60C>G
NM_001139490.1:c.1514C>G	NP_001132962.1:p.Ala505Gly
NM_015650.3:c.1712C>G	NP_056465.2:p.Ala571Gly
XM_006712414.1:c.1511C>G	XP_006712477.1:p.Ala504Gly
XM_011510944.1:c.1814C>G	XP_011509246.1:p.Ala605Gly
XM_011510945.1:c.1775C>G	XP_011509247.1:p.Ala592Gly
XM_011510946.1:c.1742C>G	XP_011509248.1:p.Ala581Gly
XM_011510947.1:c.1682C>G	XP_011509249.1:p.Ala561Gly
XM_011510948.1:c.1616C>G	XP_011509250.1:p.Ala539Gly
XM_011510950.1:c.680C>G	XP_011509252.1:p.Ala227Gly
XR_922902.1:n.2011C>G
XM_006712414.2:c.1511C>G	XP_006712477.1:p.Ala504Gly
XM_011510944.2:c.1814C>G	XP_011509246.1:p.Ala605Gly
XM_011510945.2:c.1775C>G	XP_011509247.1:p.Ala592Gly
XM_011510946.2:c.1742C>G	XP_011509248.1:p.Ala581Gly
XM_011510947.2:c.1682C>G	XP_011509249.1:p.Ala561Gly
XM_011510948.2:c.1616C>G	XP_011509250.1:p.Ala539Gly
XM_011510950.2:c.680C>G	XP_011509252.1:p.Ala227Gly
XM_017003789.1:c.1811C>G	XP_016859278.1:p.Ala604Gly
XR_001738696.1:n.1540C>G
XR_001738697.1:n.1537C>G
XR_922902.2:n.2074C>G
NM_015650.4:c.1712C>G MANE Select	NP_056465.2:p.Ala571Gly