Canonical Allele Identifier: CA389223315

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709625T>A (hg19) ; chr14:g.24240419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240419T>A , CM000676.2:g.24240419T>A	GRCh38
NC_000014.8:g.24709625T>A , CM000676.1:g.24709625T>A	GRCh37
NC_000014.7:g.23779465T>A	NCBI36
NG_016650.1:g.7256A>T
NG_054634.1:g.13003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1364A>T
ENST00000557921.3:c.953A>T	ENSP00000453157.3:p.Glu318Val
ENST00000699682.1:n.1451A>T
ENST00000699683.1:n.1501A>T
ENST00000699684.1:c.*654A>T	ENSP00000514523.1:n.*654A>T
ENST00000699685.1:n.1265A>T
ENST00000699686.1:c.854A>T	ENSP00000514524.1:p.Glu285Val
ENST00000699687.1:c.956A>T	ENSP00000514525.1:p.Glu319Val
ENST00000699688.1:n.1261A>T
ENST00000699689.1:n.1617A>T
ENST00000699690.1:n.1814A>T
ENST00000699691.1:n.1958A>T
ENST00000699693.1:n.1478A>T
ENST00000699694.1:n.1720A>T
ENST00000699695.1:c.*433A>T	ENSP00000514526.1:n.*433A>T
ENST00000699696.1:n.1364A>T
ENST00000699697.1:c.1061A>T	ENSP00000514527.1:p.Glu354Val
ENST00000699698.1:n.982A>T
ENST00000699699.1:n.1385A>T
ENST00000699700.1:n.1508A>T
ENST00000699701.1:c.*441A>T	ENSP00000514528.1:n.*441A>T
ENST00000267415.12:c.1061A>T MANE Select	ENSP00000267415.7:p.Glu354Val
ENST00000646753.1:c.956A>T	ENSP00000494065.1:p.Glu319Val
ENST00000267415.11:c.1061A>T	ENSP00000267415.7:p.Glu354Val
ENST00000399423.8:c.1061A>T	ENSP00000382350.4:p.Glu354Val
ENST00000557915.1:n.180A>T
ENST00000558566.1:c.*433A>T	ENSP00000453025.1:n.*433A>T
ENST00000559969.5:c.819A>T
ENST00000560019.5:c.56A>T	ENSP00000453113.1:p.Glu19Val
ENST00000626689.2:c.*433A>T	ENSP00000486681.1:n.*433A>T
NM_001099274.1:c.1061A>T	NP_001092744.1:p.Glu354Val
NM_012461.2:c.1061A>T	NP_036593.2:p.Glu354Val
XM_005267528.2:c.1061A>T	XP_005267585.1:p.Glu354Val
XM_005267529.2:c.956A>T	XP_005267586.1:p.Glu319Val
NM_001099274.2:c.1061A>T	NP_001092744.1:p.Glu354Val
NM_001363668.1:c.956A>T	NP_001350597.1:p.Glu319Val
NM_012461.3:c.1061A>T	NP_036593.2:p.Glu354Val
XM_011536642.2:c.*441A>T	XP_011534944.1:n.*441A>T
XM_017021216.2:c.419A>T	XP_016876705.1:p.Glu140Val
XM_017021217.1:c.419A>T	XP_016876706.1:p.Glu140Val
NM_001099274.3:c.1061A>T MANE Select	NP_001092744.1:p.Glu354Val
NM_001363668.2:c.956A>T	NP_001350597.1:p.Glu319Val