Canonical Allele Identifier: CA257880956

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240687G>A , CM000676.2:g.24240687G>A	GRCh38
NC_000014.8:g.24709893G>A , CM000676.1:g.24709893G>A	GRCh37
NC_000014.7:g.23779733G>A	NCBI36
NG_016650.1:g.6988C>T
NG_054634.1:g.13271G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.793C>T MANE Select	NP_001092744.1:p.Arg265Ter
ENST00000267415.12:c.793C>T MANE Select	ENSP00000267415.7:p.Arg265Ter
NM_001099274.1:c.793C>T	NP_001092744.1:p.Arg265Ter
NM_001099274.2:c.793C>T	NP_001092744.1:p.Arg265Ter
NM_001363668.1:c.688C>T	NP_001350597.1:p.Arg230Ter
NM_001363668.2:c.688C>T	NP_001350597.1:p.Arg230Ter
NM_012461.2:c.793C>T	NP_036593.2:p.Arg265Ter
NM_012461.3:c.793C>T	NP_036593.2:p.Arg265Ter
ENST00000267415.11:c.793C>T	ENSP00000267415.7:p.Arg265Ter
ENST00000399423.8:c.793C>T	ENSP00000382350.4:p.Arg265Ter
ENST00000557915.2:n.1096C>T
ENST00000557921.2:c.685C>T	ENSP00000453157.2:p.Arg229Ter
ENST00000557921.3:c.685C>T	ENSP00000453157.3:p.Arg229Ter
ENST00000558476.5:c.355C>T	ENSP00000452724.1:p.Arg119Ter
ENST00000558566.1:c.*165C>T	ENSP00000453025.1:n.*165C>T
ENST00000559019.1:c.*165C>T	ENSP00000453675.1:n.*165C>T
ENST00000559549.1:n.519C>T
ENST00000559969.5:c.749C>T
ENST00000626689.2:c.*165C>T	ENSP00000486681.1:n.*165C>T
ENST00000646753.1:c.688C>T	ENSP00000494065.1:p.Arg230Ter
ENST00000699682.1:n.1183C>T
ENST00000699683.1:n.1233C>T
ENST00000699684.1:c.*386C>T	ENSP00000514523.1:n.*386C>T
ENST00000699685.1:n.997C>T
ENST00000699686.1:c.586C>T	ENSP00000514524.1:p.Arg196Ter
ENST00000699687.1:c.688C>T	ENSP00000514525.1:p.Arg230Ter
ENST00000699688.1:n.993C>T
ENST00000699689.1:n.1349C>T
ENST00000699690.1:n.1546C>T
ENST00000699691.1:n.1690C>T
ENST00000699693.1:n.1210C>T
ENST00000699694.1:n.1452C>T
ENST00000699695.1:c.*165C>T	ENSP00000514526.1:n.*165C>T
ENST00000699696.1:n.1096C>T
ENST00000699697.1:c.793C>T	ENSP00000514527.1:p.Arg265Ter
ENST00000699698.1:n.714C>T
ENST00000699699.1:n.1117C>T
ENST00000699700.1:n.1240C>T
ENST00000699701.1:c.*173C>T	ENSP00000514528.1:n.*173C>T
XM_005267528.2:c.793C>T	XP_005267585.1:p.Arg265Ter
XM_005267529.2:c.688C>T	XP_005267586.1:p.Arg230Ter
XM_011536642.2:c.*173C>T	XP_011534944.1:n.*173C>T
XM_017021216.2:c.151C>T	XP_016876705.1:p.Arg51Ter
XM_017021217.1:c.151C>T	XP_016876706.1:p.Arg51Ter