Canonical Allele Identifier: CA389225400

Gene: TINF2

Linked Data

• COSMIC: COSM3728346 ; COSM3728347
• MyVariant Identifiers: chr14:g.24709826A>C (hg19) ; chr14:g.24240620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240620A>C , CM000676.2:g.24240620A>C	GRCh38
NC_000014.8:g.24709826A>C , CM000676.1:g.24709826A>C	GRCh37
NC_000014.7:g.23779666A>C	NCBI36
NG_016650.1:g.7055T>G
NG_054634.1:g.13204A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1163T>G
ENST00000557921.3:c.752T>G	ENSP00000453157.3:p.Leu251Arg
ENST00000699682.1:n.1250T>G
ENST00000699683.1:n.1300T>G
ENST00000699684.1:c.*453T>G	ENSP00000514523.1:n.*453T>G
ENST00000699685.1:n.1064T>G
ENST00000699686.1:c.653T>G	ENSP00000514524.1:p.Leu218Arg
ENST00000699687.1:c.755T>G	ENSP00000514525.1:p.Leu252Arg
ENST00000699688.1:n.1060T>G
ENST00000699689.1:n.1416T>G
ENST00000699690.1:n.1613T>G
ENST00000699691.1:n.1757T>G
ENST00000699693.1:n.1277T>G
ENST00000699694.1:n.1519T>G
ENST00000699695.1:c.*232T>G	ENSP00000514526.1:n.*232T>G
ENST00000699696.1:n.1163T>G
ENST00000699697.1:c.860T>G	ENSP00000514527.1:p.Leu287Arg
ENST00000699698.1:n.781T>G
ENST00000699699.1:n.1184T>G
ENST00000699700.1:n.1307T>G
ENST00000699701.1:c.*240T>G	ENSP00000514528.1:n.*240T>G
ENST00000267415.12:c.860T>G MANE Select	ENSP00000267415.7:p.Leu287Arg
ENST00000557921.2:c.752T>G	ENSP00000453157.2:p.Leu251Arg
ENST00000646753.1:c.755T>G	ENSP00000494065.1:p.Leu252Arg
ENST00000267415.11:c.860T>G	ENSP00000267415.7:p.Leu287Arg
ENST00000399423.8:c.860T>G	ENSP00000382350.4:p.Leu287Arg
ENST00000558476.5:c.422T>G	ENSP00000452724.1:p.Leu141Arg
ENST00000558566.1:c.*232T>G	ENSP00000453025.1:n.*232T>G
ENST00000559019.1:c.*232T>G	ENSP00000453675.1:n.*232T>G
ENST00000559549.1:n.586T>G
ENST00000559969.5:c.757+59T>G
ENST00000626689.2:c.*232T>G	ENSP00000486681.1:n.*232T>G
NM_001099274.1:c.860T>G	NP_001092744.1:p.Leu287Arg
NM_012461.2:c.860T>G	NP_036593.2:p.Leu287Arg
XM_005267528.2:c.860T>G	XP_005267585.1:p.Leu287Arg
XM_005267529.2:c.755T>G	XP_005267586.1:p.Leu252Arg
NM_001099274.2:c.860T>G	NP_001092744.1:p.Leu287Arg
NM_001363668.1:c.755T>G	NP_001350597.1:p.Leu252Arg
NM_012461.3:c.860T>G	NP_036593.2:p.Leu287Arg
XM_011536642.2:c.*240T>G	XP_011534944.1:n.*240T>G
XM_017021216.2:c.218T>G	XP_016876705.1:p.Leu73Arg
XM_017021217.1:c.218T>G	XP_016876706.1:p.Leu73Arg
NM_001099274.3:c.860T>G MANE Select	NP_001092744.1:p.Leu287Arg
NM_001363668.2:c.755T>G	NP_001350597.1:p.Leu252Arg