Canonical Allele Identifier: CA2695213972

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240668dup , CM000676.2:g.24240668dup	GRCh38
NC_000014.8:g.24709874dup , CM000676.1:g.24709874dup	GRCh37
NC_000014.7:g.23779714dup	NCBI36
NG_016650.1:g.7008dup
NG_054634.1:g.13252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1116dup
ENST00000557921.3:c.705dup	ENSP00000453157.3:p.Trp236MetfsTer5
ENST00000699682.1:n.1203dup
ENST00000699683.1:n.1253dup
ENST00000699684.1:c.*406dup	ENSP00000514523.1:n.*406dup
ENST00000699685.1:n.1017dup
ENST00000699686.1:c.606dup	ENSP00000514524.1:p.Trp203MetfsTer5
ENST00000699687.1:c.708dup	ENSP00000514525.1:p.Trp237MetfsTer5
ENST00000699688.1:n.1013dup
ENST00000699689.1:n.1369dup
ENST00000699690.1:n.1566dup
ENST00000699691.1:n.1710dup
ENST00000699693.1:n.1230dup
ENST00000699694.1:n.1472dup
ENST00000699695.1:c.*185dup	ENSP00000514526.1:n.*185dup
ENST00000699696.1:n.1116dup
ENST00000699697.1:c.813dup	ENSP00000514527.1:p.Trp272MetfsTer5
ENST00000699698.1:n.734dup
ENST00000699699.1:n.1137dup
ENST00000699700.1:n.1260dup
ENST00000699701.1:c.*193dup	ENSP00000514528.1:n.*193dup
ENST00000267415.12:c.813dup MANE Select	ENSP00000267415.7:p.Trp272MetfsTer5
ENST00000557921.2:c.705dup	ENSP00000453157.2:p.Trp236MetfsTer5
ENST00000646753.1:c.708dup	ENSP00000494065.1:p.Trp237MetfsTer5
ENST00000267415.11:c.813dup	ENSP00000267415.7:p.Trp272MetfsTer5
ENST00000399423.8:c.813dup	ENSP00000382350.4:p.Trp272MetfsTer5
ENST00000558476.5:c.375dup	ENSP00000452724.1:p.Trp126MetfsTer5
ENST00000558566.1:c.*185dup	ENSP00000453025.1:n.*185dup
ENST00000559019.1:c.*185dup	ENSP00000453675.1:n.*185dup
ENST00000559549.1:n.539dup
ENST00000559969.5:c.757+12dup
ENST00000626689.2:c.*185dup	ENSP00000486681.1:n.*185dup
NM_001099274.1:c.813dup	NP_001092744.1:p.Trp272MetfsTer5
NM_012461.2:c.813dup	NP_036593.2:p.Trp272MetfsTer5
XM_005267528.2:c.813dup	XP_005267585.1:p.Trp272MetfsTer5
XM_005267529.2:c.708dup	XP_005267586.1:p.Trp237MetfsTer5
NM_001099274.2:c.813dup	NP_001092744.1:p.Trp272MetfsTer5
NM_001363668.1:c.708dup	NP_001350597.1:p.Trp237MetfsTer5
NM_012461.3:c.813dup	NP_036593.2:p.Trp272MetfsTer5
XM_011536642.2:c.*193dup	XP_011534944.1:n.*193dup
XM_017021216.2:c.171dup	XP_016876705.1:p.Trp58MetfsTer5
XM_017021217.1:c.171dup	XP_016876706.1:p.Trp58MetfsTer5
NM_001099274.3:c.813dup MANE Select	NP_001092744.1:p.Trp272MetfsTer5
NM_001363668.2:c.708dup	NP_001350597.1:p.Trp237MetfsTer5