Canonical Allele Identifier: CA351245971

Gene: TRAF3IP1

Linked Data

• gnomAD v4: 2-238397526-T-G
• MyVariant Identifiers: chr2:g.239306167T>G (hg19) ; chr2:g.238397526T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397526T>G , CM000664.2:g.238397526T>G	GRCh38
NC_000002.11:g.239306167T>G , CM000664.1:g.239306167T>G	GRCh37
NC_000002.10:g.238970906T>G	NCBI36
NG_053055.1:g.82038T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1757T>G MANE Select	ENSP00000362424.4:p.Leu586Arg
ENST00000373327.4:c.1757T>G	ENSP00000362424.4:p.Leu586Arg
ENST00000391993.7:c.1559T>G	ENSP00000375851.3:p.Leu520Arg
ENST00000462122.1:n.768T>G
ENST00000483951.1:n.105T>G
NM_001139490.1:c.1559T>G	NP_001132962.1:p.Leu520Arg
NM_015650.3:c.1757T>G	NP_056465.2:p.Leu586Arg
XM_006712414.1:c.1556T>G	XP_006712477.1:p.Leu519Arg
XM_011510944.1:c.1859T>G	XP_011509246.1:p.Leu620Arg
XM_011510945.1:c.1820T>G	XP_011509247.1:p.Leu607Arg
XM_011510946.1:c.1787T>G	XP_011509248.1:p.Leu596Arg
XM_011510947.1:c.1727T>G	XP_011509249.1:p.Leu576Arg
XM_011510948.1:c.1661T>G	XP_011509250.1:p.Leu554Arg
XM_011510950.1:c.725T>G	XP_011509252.1:p.Leu242Arg
XR_922902.1:n.2056T>G
XM_006712414.2:c.1556T>G	XP_006712477.1:p.Leu519Arg
XM_011510944.2:c.1859T>G	XP_011509246.1:p.Leu620Arg
XM_011510945.2:c.1820T>G	XP_011509247.1:p.Leu607Arg
XM_011510946.2:c.1787T>G	XP_011509248.1:p.Leu596Arg
XM_011510947.2:c.1727T>G	XP_011509249.1:p.Leu576Arg
XM_011510948.2:c.1661T>G	XP_011509250.1:p.Leu554Arg
XM_011510950.2:c.725T>G	XP_011509252.1:p.Leu242Arg
XM_017003789.1:c.1856T>G	XP_016859278.1:p.Leu619Arg
XR_001738696.1:n.1585T>G
XR_001738697.1:n.1582T>G
NM_015650.4:c.1757T>G MANE Select	NP_056465.2:p.Leu586Arg