Canonical Allele Identifier: CA389225288

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709816A>T (hg19) ; chr14:g.24240610A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240610A>T , CM000676.2:g.24240610A>T	GRCh38
NC_000014.8:g.24709816A>T , CM000676.1:g.24709816A>T	GRCh37
NC_000014.7:g.23779656A>T	NCBI36
NG_016650.1:g.7065T>A
NG_054634.1:g.13194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1173T>A
ENST00000557921.3:c.762T>A	ENSP00000453157.3:p.Phe254Leu
ENST00000699682.1:n.1260T>A
ENST00000699683.1:n.1310T>A
ENST00000699684.1:c.*463T>A	ENSP00000514523.1:n.*463T>A
ENST00000699685.1:n.1074T>A
ENST00000699686.1:c.663T>A	ENSP00000514524.1:p.Phe221Leu
ENST00000699687.1:c.765T>A	ENSP00000514525.1:p.Phe255Leu
ENST00000699688.1:n.1070T>A
ENST00000699689.1:n.1426T>A
ENST00000699690.1:n.1623T>A
ENST00000699691.1:n.1767T>A
ENST00000699693.1:n.1287T>A
ENST00000699694.1:n.1529T>A
ENST00000699695.1:c.*242T>A	ENSP00000514526.1:n.*242T>A
ENST00000699696.1:n.1173T>A
ENST00000699697.1:c.870T>A	ENSP00000514527.1:p.Phe290Leu
ENST00000699698.1:n.791T>A
ENST00000699699.1:n.1194T>A
ENST00000699700.1:n.1317T>A
ENST00000699701.1:c.*250T>A	ENSP00000514528.1:n.*250T>A
ENST00000267415.12:c.870T>A MANE Select	ENSP00000267415.7:p.Phe290Leu
ENST00000557921.2:c.762T>A	ENSP00000453157.2:p.Phe254Leu
ENST00000646753.1:c.765T>A	ENSP00000494065.1:p.Phe255Leu
ENST00000267415.11:c.870T>A	ENSP00000267415.7:p.Phe290Leu
ENST00000399423.8:c.870T>A	ENSP00000382350.4:p.Phe290Leu
ENST00000558476.5:c.432T>A	ENSP00000452724.1:p.Phe144Leu
ENST00000558566.1:c.*242T>A	ENSP00000453025.1:n.*242T>A
ENST00000559019.1:c.*242T>A	ENSP00000453675.1:n.*242T>A
ENST00000559549.1:n.596T>A
ENST00000559969.5:c.757+69T>A
ENST00000626689.2:c.*242T>A	ENSP00000486681.1:n.*242T>A
NM_001099274.1:c.870T>A	NP_001092744.1:p.Phe290Leu
NM_012461.2:c.870T>A	NP_036593.2:p.Phe290Leu
XM_005267528.2:c.870T>A	XP_005267585.1:p.Phe290Leu
XM_005267529.2:c.765T>A	XP_005267586.1:p.Phe255Leu
NM_001099274.2:c.870T>A	NP_001092744.1:p.Phe290Leu
NM_001363668.1:c.765T>A	NP_001350597.1:p.Phe255Leu
NM_012461.3:c.870T>A	NP_036593.2:p.Phe290Leu
XM_011536642.2:c.*250T>A	XP_011534944.1:n.*250T>A
XM_017021216.2:c.228T>A	XP_016876705.1:p.Phe76Leu
XM_017021217.1:c.228T>A	XP_016876706.1:p.Phe76Leu
NM_001099274.3:c.870T>A MANE Select	NP_001092744.1:p.Phe290Leu
NM_001363668.2:c.765T>A	NP_001350597.1:p.Phe255Leu