Canonical Allele Identifier: CA351246485

Gene: TRAF3IP1

Linked Data

• ClinVar Variation Id: 2105429
• ClinVar RCV Id: RCV003023447
• gnomAD v4: 2-238397610-T-C
• MyVariant Identifiers: chr2:g.239306251T>C (hg19) ; chr2:g.238397610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238397610T>C , CM000664.2:g.238397610T>C	GRCh38
NC_000002.11:g.239306251T>C , CM000664.1:g.239306251T>C	GRCh37
NC_000002.10:g.238970990T>C	NCBI36
NG_053055.1:g.82122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373327.5:c.1841T>C MANE Select	ENSP00000362424.4:p.Met614Thr
ENST00000373327.4:c.1841T>C	ENSP00000362424.4:p.Met614Thr
ENST00000391993.7:c.1643T>C	ENSP00000375851.3:p.Met548Thr
ENST00000462122.1:n.852T>C
ENST00000483951.1:n.189T>C
NM_001139490.1:c.1643T>C	NP_001132962.1:p.Met548Thr
NM_015650.3:c.1841T>C	NP_056465.2:p.Met614Thr
XM_006712414.1:c.1640T>C	XP_006712477.1:p.Met547Thr
XM_011510944.1:c.1943T>C	XP_011509246.1:p.Met648Thr
XM_011510945.1:c.1904T>C	XP_011509247.1:p.Met635Thr
XM_011510946.1:c.1871T>C	XP_011509248.1:p.Met624Thr
XM_011510947.1:c.1811T>C	XP_011509249.1:p.Met604Thr
XM_011510948.1:c.1745T>C	XP_011509250.1:p.Met582Thr
XM_011510950.1:c.809T>C	XP_011509252.1:p.Met270Thr
XM_006712414.2:c.1640T>C	XP_006712477.1:p.Met547Thr
XM_011510944.2:c.1943T>C	XP_011509246.1:p.Met648Thr
XM_011510945.2:c.1904T>C	XP_011509247.1:p.Met635Thr
XM_011510946.2:c.1871T>C	XP_011509248.1:p.Met624Thr
XM_011510947.2:c.1811T>C	XP_011509249.1:p.Met604Thr
XM_011510948.2:c.1745T>C	XP_011509250.1:p.Met582Thr
XM_011510950.2:c.809T>C	XP_011509252.1:p.Met270Thr
XM_017003789.1:c.1940T>C	XP_016859278.1:p.Met647Thr
XR_001738696.1:n.1669T>C
XR_001738697.1:n.1666T>C
NM_015650.4:c.1841T>C MANE Select	NP_056465.2:p.Met614Thr