Canonical Allele Identifier: CA67990694

Gene: TRAF3IP1

Linked Data

• dbSNP Id: rs533397279
• gnomAD v4: 2-238397489-A-G
• MyVariant Identifiers: chr2:g.239306130A>G (hg19) ; chr2:g.238397489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397489A>G , CM000664.2:g.238397489A>G	GRCh38
NC_000002.11:g.239306130A>G , CM000664.1:g.239306130A>G	GRCh37
NC_000002.10:g.238970869A>G	NCBI36
NG_053055.1:g.82001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1720A>G MANE Select	ENSP00000362424.4:p.Lys574Glu
ENST00000373327.4:c.1720A>G	ENSP00000362424.4:p.Lys574Glu
ENST00000391993.7:c.1522A>G	ENSP00000375851.3:p.Lys508Glu
ENST00000462122.1:n.731A>G
ENST00000483951.1:n.68A>G
NM_001139490.1:c.1522A>G	NP_001132962.1:p.Lys508Glu
NM_015650.3:c.1720A>G	NP_056465.2:p.Lys574Glu
XM_006712414.1:c.1519A>G	XP_006712477.1:p.Lys507Glu
XM_011510944.1:c.1822A>G	XP_011509246.1:p.Lys608Glu
XM_011510945.1:c.1783A>G	XP_011509247.1:p.Lys595Glu
XM_011510946.1:c.1750A>G	XP_011509248.1:p.Lys584Glu
XM_011510947.1:c.1690A>G	XP_011509249.1:p.Lys564Glu
XM_011510948.1:c.1624A>G	XP_011509250.1:p.Lys542Glu
XM_011510950.1:c.688A>G	XP_011509252.1:p.Lys230Glu
XR_922902.1:n.2019A>G
XM_006712414.2:c.1519A>G	XP_006712477.1:p.Lys507Glu
XM_011510944.2:c.1822A>G	XP_011509246.1:p.Lys608Glu
XM_011510945.2:c.1783A>G	XP_011509247.1:p.Lys595Glu
XM_011510946.2:c.1750A>G	XP_011509248.1:p.Lys584Glu
XM_011510947.2:c.1690A>G	XP_011509249.1:p.Lys564Glu
XM_011510948.2:c.1624A>G	XP_011509250.1:p.Lys542Glu
XM_011510950.2:c.688A>G	XP_011509252.1:p.Lys230Glu
XM_017003789.1:c.1819A>G	XP_016859278.1:p.Lys607Glu
XR_001738696.1:n.1548A>G
XR_001738697.1:n.1545A>G
XR_922902.2:n.2082A>G
NM_015650.4:c.1720A>G MANE Select	NP_056465.2:p.Lys574Glu