Canonical Allele Identifier: CA351245831

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 2106833
• ClinVar RCV Id: RCV003026665
• gnomAD v4: 2-238397490-A-C
• MyVariant Identifiers: chr2:g.239306131A>C (hg19) ; chr2:g.238397490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397490A>C , CM000664.2:g.238397490A>C	GRCh38
NC_000002.11:g.239306131A>C , CM000664.1:g.239306131A>C	GRCh37
NC_000002.10:g.238970870A>C	NCBI36
NG_053055.1:g.82002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1721A>C MANE Select	ENSP00000362424.4:p.Lys574Thr
ENST00000373327.4:c.1721A>C	ENSP00000362424.4:p.Lys574Thr
ENST00000391993.7:c.1523A>C	ENSP00000375851.3:p.Lys508Thr
ENST00000462122.1:n.732A>C
ENST00000483951.1:n.69A>C
NM_001139490.1:c.1523A>C	NP_001132962.1:p.Lys508Thr
NM_015650.3:c.1721A>C	NP_056465.2:p.Lys574Thr
XM_006712414.1:c.1520A>C	XP_006712477.1:p.Lys507Thr
XM_011510944.1:c.1823A>C	XP_011509246.1:p.Lys608Thr
XM_011510945.1:c.1784A>C	XP_011509247.1:p.Lys595Thr
XM_011510946.1:c.1751A>C	XP_011509248.1:p.Lys584Thr
XM_011510947.1:c.1691A>C	XP_011509249.1:p.Lys564Thr
XM_011510948.1:c.1625A>C	XP_011509250.1:p.Lys542Thr
XM_011510950.1:c.689A>C	XP_011509252.1:p.Lys230Thr
XR_922902.1:n.2020A>C
XM_006712414.2:c.1520A>C	XP_006712477.1:p.Lys507Thr
XM_011510944.2:c.1823A>C	XP_011509246.1:p.Lys608Thr
XM_011510945.2:c.1784A>C	XP_011509247.1:p.Lys595Thr
XM_011510946.2:c.1751A>C	XP_011509248.1:p.Lys584Thr
XM_011510947.2:c.1691A>C	XP_011509249.1:p.Lys564Thr
XM_011510948.2:c.1625A>C	XP_011509250.1:p.Lys542Thr
XM_011510950.2:c.689A>C	XP_011509252.1:p.Lys230Thr
XM_017003789.1:c.1820A>C	XP_016859278.1:p.Lys607Thr
XR_001738696.1:n.1549A>C
XR_001738697.1:n.1546A>C
XR_922902.2:n.2083A>C
NM_015650.4:c.1721A>C MANE Select	NP_056465.2:p.Lys574Thr