Canonical Allele Identifier: CA2198557

Gene: TRAF3IP1

Linked Data

• dbSNP Id: rs758203908
• ExAC: 2:239306124 T / C
• gnomAD v2: 2-239306124-T-C
• MyVariant Identifiers: chr2:g.239306124T>C (hg19) ; chr2:g.238397483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397483T>C , CM000664.2:g.238397483T>C	GRCh38
NC_000002.11:g.239306124T>C , CM000664.1:g.239306124T>C	GRCh37
NC_000002.10:g.238970863T>C	NCBI36
NG_053055.1:g.81995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1714T>C MANE Select	ENSP00000362424.4:p.Trp572Arg
ENST00000373327.4:c.1714T>C	ENSP00000362424.4:p.Trp572Arg
ENST00000391993.7:c.1516T>C	ENSP00000375851.3:p.Trp506Arg
ENST00000462122.1:n.725T>C
ENST00000483951.1:n.62T>C
NM_001139490.1:c.1516T>C	NP_001132962.1:p.Trp506Arg
NM_015650.3:c.1714T>C	NP_056465.2:p.Trp572Arg
XM_006712414.1:c.1513T>C	XP_006712477.1:p.Trp505Arg
XM_011510944.1:c.1816T>C	XP_011509246.1:p.Trp606Arg
XM_011510945.1:c.1777T>C	XP_011509247.1:p.Trp593Arg
XM_011510946.1:c.1744T>C	XP_011509248.1:p.Trp582Arg
XM_011510947.1:c.1684T>C	XP_011509249.1:p.Trp562Arg
XM_011510948.1:c.1618T>C	XP_011509250.1:p.Trp540Arg
XM_011510950.1:c.682T>C	XP_011509252.1:p.Trp228Arg
XR_922902.1:n.2013T>C
XM_006712414.2:c.1513T>C	XP_006712477.1:p.Trp505Arg
XM_011510944.2:c.1816T>C	XP_011509246.1:p.Trp606Arg
XM_011510945.2:c.1777T>C	XP_011509247.1:p.Trp593Arg
XM_011510946.2:c.1744T>C	XP_011509248.1:p.Trp582Arg
XM_011510947.2:c.1684T>C	XP_011509249.1:p.Trp562Arg
XM_011510948.2:c.1618T>C	XP_011509250.1:p.Trp540Arg
XM_011510950.2:c.682T>C	XP_011509252.1:p.Trp228Arg
XM_017003789.1:c.1813T>C	XP_016859278.1:p.Trp605Arg
XR_001738696.1:n.1542T>C
XR_001738697.1:n.1539T>C
XR_922902.2:n.2076T>C
NM_015650.4:c.1714T>C MANE Select	NP_056465.2:p.Trp572Arg