Canonical Allele Identifier: CA389224342

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709739A>T (hg19) ; chr14:g.24240533A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240533A>T , CM000676.2:g.24240533A>T	GRCh38
NC_000014.8:g.24709739A>T , CM000676.1:g.24709739A>T	GRCh37
NC_000014.7:g.23779579A>T	NCBI36
NG_016650.1:g.7142T>A
NG_054634.1:g.13117A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1250T>A
ENST00000557921.3:c.839T>A	ENSP00000453157.3:p.Leu280Gln
ENST00000699682.1:n.1337T>A
ENST00000699683.1:n.1387T>A
ENST00000699684.1:c.*540T>A	ENSP00000514523.1:n.*540T>A
ENST00000699685.1:n.1151T>A
ENST00000699686.1:c.740T>A	ENSP00000514524.1:p.Leu247Gln
ENST00000699687.1:c.842T>A	ENSP00000514525.1:p.Leu281Gln
ENST00000699688.1:n.1147T>A
ENST00000699689.1:n.1503T>A
ENST00000699690.1:n.1700T>A
ENST00000699691.1:n.1844T>A
ENST00000699693.1:n.1364T>A
ENST00000699694.1:n.1606T>A
ENST00000699695.1:c.*319T>A	ENSP00000514526.1:n.*319T>A
ENST00000699696.1:n.1250T>A
ENST00000699697.1:c.947T>A	ENSP00000514527.1:p.Leu316Gln
ENST00000699698.1:n.868T>A
ENST00000699699.1:n.1271T>A
ENST00000699700.1:n.1394T>A
ENST00000699701.1:c.*327T>A	ENSP00000514528.1:n.*327T>A
ENST00000267415.12:c.947T>A MANE Select	ENSP00000267415.7:p.Leu316Gln
ENST00000557921.2:c.839T>A	ENSP00000453157.2:p.Leu280Gln
ENST00000646753.1:c.842T>A	ENSP00000494065.1:p.Leu281Gln
ENST00000267415.11:c.947T>A	ENSP00000267415.7:p.Leu316Gln
ENST00000399423.8:c.947T>A	ENSP00000382350.4:p.Leu316Gln
ENST00000557915.1:n.66T>A
ENST00000558566.1:c.*319T>A	ENSP00000453025.1:n.*319T>A
ENST00000559019.1:c.*319T>A	ENSP00000453675.1:n.*319T>A
ENST00000559969.5:c.758-53T>A
ENST00000626689.2:c.*319T>A	ENSP00000486681.1:n.*319T>A
NM_001099274.1:c.947T>A	NP_001092744.1:p.Leu316Gln
NM_012461.2:c.947T>A	NP_036593.2:p.Leu316Gln
XM_005267528.2:c.947T>A	XP_005267585.1:p.Leu316Gln
XM_005267529.2:c.842T>A	XP_005267586.1:p.Leu281Gln
NM_001099274.2:c.947T>A	NP_001092744.1:p.Leu316Gln
NM_001363668.1:c.842T>A	NP_001350597.1:p.Leu281Gln
NM_012461.3:c.947T>A	NP_036593.2:p.Leu316Gln
XM_011536642.2:c.*327T>A	XP_011534944.1:n.*327T>A
XM_017021216.2:c.305T>A	XP_016876705.1:p.Leu102Gln
XM_017021217.1:c.305T>A	XP_016876706.1:p.Leu102Gln
NM_001099274.3:c.947T>A MANE Select	NP_001092744.1:p.Leu316Gln
NM_001363668.2:c.842T>A	NP_001350597.1:p.Leu281Gln