Canonical Allele Identifier: CA351246362

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 2088580
• ClinVar RCV Id: RCV003018136
• dbSNP Id: rs1701287180
• gnomAD v4: 2-238397592-A-G
• COSMIC: COSM6287890 ; COSM6287891
• MyVariant Identifiers: chr2:g.239306233A>G (hg19) ; chr2:g.238397592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397592A>G , CM000664.2:g.238397592A>G	GRCh38
NC_000002.11:g.239306233A>G , CM000664.1:g.239306233A>G	GRCh37
NC_000002.10:g.238970972A>G	NCBI36
NG_053055.1:g.82104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1823A>G MANE Select	ENSP00000362424.4:p.Gln608Arg
ENST00000373327.4:c.1823A>G	ENSP00000362424.4:p.Gln608Arg
ENST00000391993.7:c.1625A>G	ENSP00000375851.3:p.Gln542Arg
ENST00000462122.1:n.834A>G
ENST00000483951.1:n.171A>G
NM_001139490.1:c.1625A>G	NP_001132962.1:p.Gln542Arg
NM_015650.3:c.1823A>G	NP_056465.2:p.Gln608Arg
XM_006712414.1:c.1622A>G	XP_006712477.1:p.Gln541Arg
XM_011510944.1:c.1925A>G	XP_011509246.1:p.Gln642Arg
XM_011510945.1:c.1886A>G	XP_011509247.1:p.Gln629Arg
XM_011510946.1:c.1853A>G	XP_011509248.1:p.Gln618Arg
XM_011510947.1:c.1793A>G	XP_011509249.1:p.Gln598Arg
XM_011510948.1:c.1727A>G	XP_011509250.1:p.Gln576Arg
XM_011510950.1:c.791A>G	XP_011509252.1:p.Gln264Arg
XM_006712414.2:c.1622A>G	XP_006712477.1:p.Gln541Arg
XM_011510944.2:c.1925A>G	XP_011509246.1:p.Gln642Arg
XM_011510945.2:c.1886A>G	XP_011509247.1:p.Gln629Arg
XM_011510946.2:c.1853A>G	XP_011509248.1:p.Gln618Arg
XM_011510947.2:c.1793A>G	XP_011509249.1:p.Gln598Arg
XM_011510948.2:c.1727A>G	XP_011509250.1:p.Gln576Arg
XM_011510950.2:c.791A>G	XP_011509252.1:p.Gln264Arg
XM_017003789.1:c.1922A>G	XP_016859278.1:p.Gln641Arg
XR_001738696.1:n.1651A>G
XR_001738697.1:n.1648A>G
NM_015650.4:c.1823A>G MANE Select	NP_056465.2:p.Gln608Arg