Canonical Allele Identifier: CA343184
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38922
ClinVar RCV Id: RCV000032173
dbSNP Id: rs199422315

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240634dup , CM000676.2:g.24240634dup GRCh38
NC_000014.8:g.24709840dup , CM000676.1:g.24709840dup GRCh37
NC_000014.7:g.23779680dup NCBI36
NG_016650.1:g.7044dup
NG_054634.1:g.13218dup

Transcript Alleles

HGVS Amino-acid change
ENST00000267415.12:c.849dup MANE Select ENSP00000267415.7:p.Thr284HisfsTer8
ENST00000557921.2:c.741dup ENSP00000453157.2:p.Thr248HisfsTer8
ENST00000646753.1:c.744dup ENSP00000494065.1:p.Thr249HisfsTer8
ENST00000267415.11:c.849dup ENSP00000267415.7:p.Thr284HisfsTer8
ENST00000399423.8:c.849dup ENSP00000382350.4:p.Thr284HisfsTer8
ENST00000558476.5:c.411dup ENSP00000452724.1:p.Thr138HisfsTer8
ENST00000558566.1:c.*221dup ENSP00000453025.1:p.=
ENST00000559019.1:c.*221dup ENSP00000453675.1:p.=
ENST00000559549.1:n.575dup
ENST00000559969.5:n.757+48dup
ENST00000626689.2:c.*221dup ENSP00000486681.1:p.=
NM_001099274.1:c.849dup NP_001092744.1:p.Thr284HisfsTer8
NM_012461.2:c.849dup NP_036593.2:p.Thr284HisfsTer8
XM_005267528.2:c.849dup XP_005267585.1:p.Thr284HisfsTer8
XM_005267529.2:c.744dup XP_005267586.1:p.Thr249HisfsTer8
NM_001099274.2:c.849dup NP_001092744.1:p.Thr284HisfsTer8
NM_001363668.1:c.744dup NP_001350597.1:p.Thr249HisfsTer8
NM_012461.3:c.849dup NP_036593.2:p.Thr284HisfsTer8
XM_011536642.2:c.*229dup XP_011534944.1:p.=
XM_017021216.2:c.207dup XP_016876705.1:p.Thr70HisfsTer8
XM_017021217.1:c.207dup XP_016876706.1:p.Thr70HisfsTer8
NM_001099274.3:c.849dup MANE Select NP_001092744.1:p.Thr284HisfsTer8
NM_001363668.2:c.744dup NP_001350597.1:p.Thr249HisfsTer8