Canonical Allele Identifier: CA2198572

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 1140809
• ClinVar RCV Id: RCV001478004
• dbSNP Id: rs201183706
• ExAC: 2:239306177 C / T
• gnomAD v2: 2-239306177-C-T
• gnomAD v3: 2-238397536-C-T
• gnomAD v4: 2-238397536-C-T
• MyVariant Identifiers: chr2:g.239306177C>T (hg19) ; chr2:g.238397536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397536C>T , CM000664.2:g.238397536C>T	GRCh38
NC_000002.11:g.239306177C>T , CM000664.1:g.239306177C>T	GRCh37
NC_000002.10:g.238970916C>T	NCBI36
NG_053055.1:g.82048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1767C>T MANE Select	ENSP00000362424.4:p.Ser589=
ENST00000373327.4:c.1767C>T	ENSP00000362424.4:p.Ser589=
ENST00000391993.7:c.1569C>T	ENSP00000375851.3:p.Ser523=
ENST00000462122.1:n.778C>T
ENST00000483951.1:n.115C>T
NM_001139490.1:c.1569C>T	NP_001132962.1:p.Ser523=
NM_015650.3:c.1767C>T	NP_056465.2:p.Ser589=
XM_006712414.1:c.1566C>T	XP_006712477.1:p.Ser522=
XM_011510944.1:c.1869C>T	XP_011509246.1:p.Ser623=
XM_011510945.1:c.1830C>T	XP_011509247.1:p.Ser610=
XM_011510946.1:c.1797C>T	XP_011509248.1:p.Ser599=
XM_011510947.1:c.1737C>T	XP_011509249.1:p.Ser579=
XM_011510948.1:c.1671C>T	XP_011509250.1:p.Ser557=
XM_011510950.1:c.735C>T	XP_011509252.1:p.Ser245=
XR_922902.1:n.2066C>T
XM_006712414.2:c.1566C>T	XP_006712477.1:p.Ser522=
XM_011510944.2:c.1869C>T	XP_011509246.1:p.Ser623=
XM_011510945.2:c.1830C>T	XP_011509247.1:p.Ser610=
XM_011510946.2:c.1797C>T	XP_011509248.1:p.Ser599=
XM_011510947.2:c.1737C>T	XP_011509249.1:p.Ser579=
XM_011510948.2:c.1671C>T	XP_011509250.1:p.Ser557=
XM_011510950.2:c.735C>T	XP_011509252.1:p.Ser245=
XM_017003789.1:c.1866C>T	XP_016859278.1:p.Ser622=
XR_001738696.1:n.1595C>T
XR_001738697.1:n.1592C>T
NM_015650.4:c.1767C>T MANE Select	NP_056465.2:p.Ser589=