Canonical Allele Identifier: CA2123849271

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2865763
• ClinVar RCV Id: RCV003646734
• dbSNP Id: rs2040551370

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240562del , CM000676.2:g.24240562del	GRCh38
NC_000014.8:g.24709768del , CM000676.1:g.24709768del	GRCh37
NC_000014.7:g.23779608del	NCBI36
NG_016650.1:g.7114del
NG_054634.1:g.13146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1222del
ENST00000557921.3:c.811del	ENSP00000453157.3:p.Glu271LysfsTer10
ENST00000699682.1:n.1309del
ENST00000699683.1:n.1359del
ENST00000699684.1:c.*512del	ENSP00000514523.1:n.*512del
ENST00000699685.1:n.1123del
ENST00000699686.1:c.712del	ENSP00000514524.1:p.Glu238LysfsTer10
ENST00000699687.1:c.814del	ENSP00000514525.1:p.Glu272LysfsTer10
ENST00000699688.1:n.1119del
ENST00000699689.1:n.1475del
ENST00000699690.1:n.1672del
ENST00000699691.1:n.1816del
ENST00000699693.1:n.1336del
ENST00000699694.1:n.1578del
ENST00000699695.1:c.*291del	ENSP00000514526.1:n.*291del
ENST00000699696.1:n.1222del
ENST00000699697.1:c.919del	ENSP00000514527.1:p.Glu307LysfsTer10
ENST00000699698.1:n.840del
ENST00000699699.1:n.1243del
ENST00000699700.1:n.1366del
ENST00000699701.1:c.*299del	ENSP00000514528.1:n.*299del
ENST00000267415.12:c.919del MANE Select	ENSP00000267415.7:p.Glu307LysfsTer10
ENST00000557921.2:c.811del	ENSP00000453157.2:p.Glu271LysfsTer10
ENST00000646753.1:c.814del	ENSP00000494065.1:p.Glu272LysfsTer10
ENST00000267415.11:c.919del	ENSP00000267415.7:p.Glu307LysfsTer10
ENST00000399423.8:c.919del	ENSP00000382350.4:p.Glu307LysfsTer10
ENST00000557915.1:n.38del
ENST00000558566.1:c.*291del	ENSP00000453025.1:n.*291del
ENST00000559019.1:c.*291del	ENSP00000453675.1:n.*291del
ENST00000559969.5:c.758-81del
ENST00000626689.2:c.*291del	ENSP00000486681.1:n.*291del
NM_001099274.1:c.919del	NP_001092744.1:p.Glu307LysfsTer10
NM_012461.2:c.919del	NP_036593.2:p.Glu307LysfsTer10
XM_005267528.2:c.919del	XP_005267585.1:p.Glu307LysfsTer10
XM_005267529.2:c.814del	XP_005267586.1:p.Glu272LysfsTer10
NM_001099274.2:c.919del	NP_001092744.1:p.Glu307LysfsTer10
NM_001363668.1:c.814del	NP_001350597.1:p.Glu272LysfsTer10
NM_012461.3:c.919del	NP_036593.2:p.Glu307LysfsTer10
XM_011536642.2:c.*299del	XP_011534944.1:n.*299del
XM_017021216.2:c.277del	XP_016876705.1:p.Glu93LysfsTer10
XM_017021217.1:c.277del	XP_016876706.1:p.Glu93LysfsTer10
NM_001099274.3:c.919del MANE Select	NP_001092744.1:p.Glu307LysfsTer10
NM_001363668.2:c.814del	NP_001350597.1:p.Glu272LysfsTer10