Canonical Allele Identifier: CA389225317

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709818A>T (hg19) ; chr14:g.24240612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240612A>T , CM000676.2:g.24240612A>T	GRCh38
NC_000014.8:g.24709818A>T , CM000676.1:g.24709818A>T	GRCh37
NC_000014.7:g.23779658A>T	NCBI36
NG_016650.1:g.7063T>A
NG_054634.1:g.13196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1171T>A
ENST00000557921.3:c.760T>A	ENSP00000453157.3:p.Phe254Ile
ENST00000699682.1:n.1258T>A
ENST00000699683.1:n.1308T>A
ENST00000699684.1:c.*461T>A	ENSP00000514523.1:n.*461T>A
ENST00000699685.1:n.1072T>A
ENST00000699686.1:c.661T>A	ENSP00000514524.1:p.Phe221Ile
ENST00000699687.1:c.763T>A	ENSP00000514525.1:p.Phe255Ile
ENST00000699688.1:n.1068T>A
ENST00000699689.1:n.1424T>A
ENST00000699690.1:n.1621T>A
ENST00000699691.1:n.1765T>A
ENST00000699693.1:n.1285T>A
ENST00000699694.1:n.1527T>A
ENST00000699695.1:c.*240T>A	ENSP00000514526.1:n.*240T>A
ENST00000699696.1:n.1171T>A
ENST00000699697.1:c.868T>A	ENSP00000514527.1:p.Phe290Ile
ENST00000699698.1:n.789T>A
ENST00000699699.1:n.1192T>A
ENST00000699700.1:n.1315T>A
ENST00000699701.1:c.*248T>A	ENSP00000514528.1:n.*248T>A
ENST00000267415.12:c.868T>A MANE Select	ENSP00000267415.7:p.Phe290Ile
ENST00000557921.2:c.760T>A	ENSP00000453157.2:p.Phe254Ile
ENST00000646753.1:c.763T>A	ENSP00000494065.1:p.Phe255Ile
ENST00000267415.11:c.868T>A	ENSP00000267415.7:p.Phe290Ile
ENST00000399423.8:c.868T>A	ENSP00000382350.4:p.Phe290Ile
ENST00000558476.5:c.430T>A	ENSP00000452724.1:p.Phe144Ile
ENST00000558566.1:c.*240T>A	ENSP00000453025.1:n.*240T>A
ENST00000559019.1:c.*240T>A	ENSP00000453675.1:n.*240T>A
ENST00000559549.1:n.594T>A
ENST00000559969.5:c.757+67T>A
ENST00000626689.2:c.*240T>A	ENSP00000486681.1:n.*240T>A
NM_001099274.1:c.868T>A	NP_001092744.1:p.Phe290Ile
NM_012461.2:c.868T>A	NP_036593.2:p.Phe290Ile
XM_005267528.2:c.868T>A	XP_005267585.1:p.Phe290Ile
XM_005267529.2:c.763T>A	XP_005267586.1:p.Phe255Ile
NM_001099274.2:c.868T>A	NP_001092744.1:p.Phe290Ile
NM_001363668.1:c.763T>A	NP_001350597.1:p.Phe255Ile
NM_012461.3:c.868T>A	NP_036593.2:p.Phe290Ile
XM_011536642.2:c.*248T>A	XP_011534944.1:n.*248T>A
XM_017021216.2:c.226T>A	XP_016876705.1:p.Phe76Ile
XM_017021217.1:c.226T>A	XP_016876706.1:p.Phe76Ile
NM_001099274.3:c.868T>A MANE Select	NP_001092744.1:p.Phe290Ile
NM_001363668.2:c.763T>A	NP_001350597.1:p.Phe255Ile