Canonical Allele Identifier: CA351245783

Gene: TRAF3IP1

Linked Data

• gnomAD v4: 2-238397468-C-G
• MyVariant Identifiers: chr2:g.239306109C>G (hg19) ; chr2:g.238397468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397468C>G , CM000664.2:g.238397468C>G	GRCh38
NC_000002.11:g.239306109C>G , CM000664.1:g.239306109C>G	GRCh37
NC_000002.10:g.238970848C>G	NCBI36
NG_053055.1:g.81980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1699C>G MANE Select	ENSP00000362424.4:p.Leu567Val
ENST00000373327.4:c.1699C>G	ENSP00000362424.4:p.Leu567Val
ENST00000391993.7:c.1501C>G	ENSP00000375851.3:p.Leu501Val
ENST00000462122.1:n.710C>G
ENST00000483951.1:n.47C>G
NM_001139490.1:c.1501C>G	NP_001132962.1:p.Leu501Val
NM_015650.3:c.1699C>G	NP_056465.2:p.Leu567Val
XM_006712414.1:c.1498C>G	XP_006712477.1:p.Leu500Val
XM_011510944.1:c.1801C>G	XP_011509246.1:p.Leu601Val
XM_011510945.1:c.1762C>G	XP_011509247.1:p.Leu588Val
XM_011510946.1:c.1729C>G	XP_011509248.1:p.Leu577Val
XM_011510947.1:c.1669C>G	XP_011509249.1:p.Leu557Val
XM_011510948.1:c.1603C>G	XP_011509250.1:p.Leu535Val
XM_011510950.1:c.667C>G	XP_011509252.1:p.Leu223Val
XR_922902.1:n.1998C>G
XM_006712414.2:c.1498C>G	XP_006712477.1:p.Leu500Val
XM_011510944.2:c.1801C>G	XP_011509246.1:p.Leu601Val
XM_011510945.2:c.1762C>G	XP_011509247.1:p.Leu588Val
XM_011510946.2:c.1729C>G	XP_011509248.1:p.Leu577Val
XM_011510947.2:c.1669C>G	XP_011509249.1:p.Leu557Val
XM_011510948.2:c.1603C>G	XP_011509250.1:p.Leu535Val
XM_011510950.2:c.667C>G	XP_011509252.1:p.Leu223Val
XM_017003789.1:c.1798C>G	XP_016859278.1:p.Leu600Val
XR_001738696.1:n.1527C>G
XR_001738697.1:n.1524C>G
XR_922902.2:n.2061C>G
NM_015650.4:c.1699C>G MANE Select	NP_056465.2:p.Leu567Val