Canonical Allele Identifier: CA2123849112

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1323689
• ClinVar RCV Id: RCV002541167
• dbSNP Id: rs2040546606
• gnomAD v3: 14-24240421-C-CT
• gnomAD v4: 14-24240421-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240425dup , CM000676.2:g.24240425dup	GRCh38
NC_000014.8:g.24709631dup , CM000676.1:g.24709631dup	GRCh37
NC_000014.7:g.23779471dup	NCBI36
NG_016650.1:g.7253dup
NG_054634.1:g.13009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1361dup
ENST00000557921.3:c.950dup	ENSP00000453157.3:p.Glu318GlyfsTer?
ENST00000699682.1:n.1448dup
ENST00000699683.1:n.1498dup
ENST00000699684.1:c.*651dup	ENSP00000514523.1:n.*651dup
ENST00000699685.1:n.1262dup
ENST00000699686.1:c.851dup	ENSP00000514524.1:p.Glu285GlyfsTer?
ENST00000699687.1:c.953dup	ENSP00000514525.1:p.Glu319GlyfsTer?
ENST00000699688.1:n.1258dup
ENST00000699689.1:n.1614dup
ENST00000699690.1:n.1811dup
ENST00000699691.1:n.1955dup
ENST00000699693.1:n.1475dup
ENST00000699694.1:n.1717dup
ENST00000699695.1:c.*430dup	ENSP00000514526.1:n.*430dup
ENST00000699696.1:n.1361dup
ENST00000699697.1:c.1058dup	ENSP00000514527.1:p.Glu354GlyfsTer19
ENST00000699698.1:n.979dup
ENST00000699699.1:n.1382dup
ENST00000699700.1:n.1505dup
ENST00000699701.1:c.*438dup	ENSP00000514528.1:n.*438dup
ENST00000267415.12:c.1058dup MANE Select	ENSP00000267415.7:p.Glu354GlyfsTer19
ENST00000646753.1:c.953dup	ENSP00000494065.1:p.Glu319GlyfsTer19
ENST00000267415.11:c.1058dup	ENSP00000267415.7:p.Glu354GlyfsTer19
ENST00000399423.8:c.1058dup	ENSP00000382350.4:p.Glu354GlyfsTer?
ENST00000557915.1:n.177dup
ENST00000558566.1:c.*430dup	ENSP00000453025.1:n.*430dup
ENST00000559969.5:c.816dup
ENST00000560019.5:c.53dup	ENSP00000453113.1:p.Glu19GlyfsTer19
ENST00000626689.2:c.*430dup	ENSP00000486681.1:n.*430dup
NM_001099274.1:c.1058dup	NP_001092744.1:p.Glu354GlyfsTer19
NM_012461.2:c.1058dup	NP_036593.2:p.Glu354GlyfsTer?
XM_005267528.2:c.1058dup	XP_005267585.1:p.Glu354GlyfsTer19
XM_005267529.2:c.953dup	XP_005267586.1:p.Glu319GlyfsTer19
NM_001099274.2:c.1058dup	NP_001092744.1:p.Glu354GlyfsTer19
NM_001363668.1:c.953dup	NP_001350597.1:p.Glu319GlyfsTer19
NM_012461.3:c.1058dup	NP_036593.2:p.Glu354GlyfsTer?
XM_011536642.2:c.*438dup	XP_011534944.1:n.*438dup
XM_017021216.2:c.416dup	XP_016876705.1:p.Glu140GlyfsTer19
XM_017021217.1:c.416dup	XP_016876706.1:p.Glu140GlyfsTer19
NM_001099274.3:c.1058dup MANE Select	NP_001092744.1:p.Glu354GlyfsTer19
NM_001363668.2:c.953dup	NP_001350597.1:p.Glu319GlyfsTer19