Canonical Allele Identifier: CA389224339

Gene: TINF2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1250T>G
ENST00000557921.3:c.839T>G	ENSP00000453157.3:p.Leu280Arg
ENST00000699682.1:n.1337T>G
ENST00000699683.1:n.1387T>G
ENST00000699684.1:c.*540T>G	ENSP00000514523.1:n.*540T>G
ENST00000699685.1:n.1151T>G
ENST00000699686.1:c.740T>G	ENSP00000514524.1:p.Leu247Arg
ENST00000699687.1:c.842T>G	ENSP00000514525.1:p.Leu281Arg
ENST00000699688.1:n.1147T>G
ENST00000699689.1:n.1503T>G
ENST00000699690.1:n.1700T>G
ENST00000699691.1:n.1844T>G
ENST00000699693.1:n.1364T>G
ENST00000699694.1:n.1606T>G
ENST00000699695.1:c.*319T>G	ENSP00000514526.1:n.*319T>G
ENST00000699696.1:n.1250T>G
ENST00000699697.1:c.947T>G	ENSP00000514527.1:p.Leu316Arg
ENST00000699698.1:n.868T>G
ENST00000699699.1:n.1271T>G
ENST00000699700.1:n.1394T>G
ENST00000699701.1:c.*327T>G	ENSP00000514528.1:n.*327T>G
ENST00000267415.12:c.947T>G MANE Select	ENSP00000267415.7:p.Leu316Arg
ENST00000557921.2:c.839T>G	ENSP00000453157.2:p.Leu280Arg
ENST00000646753.1:c.842T>G	ENSP00000494065.1:p.Leu281Arg
ENST00000267415.11:c.947T>G	ENSP00000267415.7:p.Leu316Arg
ENST00000399423.8:c.947T>G	ENSP00000382350.4:p.Leu316Arg
ENST00000557915.1:n.66T>G
ENST00000558566.1:c.*319T>G	ENSP00000453025.1:n.*319T>G
ENST00000559019.1:c.*319T>G	ENSP00000453675.1:n.*319T>G
ENST00000559969.5:c.758-53T>G
ENST00000626689.2:c.*319T>G	ENSP00000486681.1:n.*319T>G
NM_001099274.1:c.947T>G	NP_001092744.1:p.Leu316Arg
NM_012461.2:c.947T>G	NP_036593.2:p.Leu316Arg
XM_005267528.2:c.947T>G	XP_005267585.1:p.Leu316Arg
XM_005267529.2:c.842T>G	XP_005267586.1:p.Leu281Arg
NM_001099274.2:c.947T>G	NP_001092744.1:p.Leu316Arg
NM_001363668.1:c.842T>G	NP_001350597.1:p.Leu281Arg
NM_012461.3:c.947T>G	NP_036593.2:p.Leu316Arg
XM_011536642.2:c.*327T>G	XP_011534944.1:n.*327T>G
XM_017021216.2:c.305T>G	XP_016876705.1:p.Leu102Arg
XM_017021217.1:c.305T>G	XP_016876706.1:p.Leu102Arg
NM_001099274.3:c.947T>G MANE Select	NP_001092744.1:p.Leu316Arg
NM_001363668.2:c.842T>G	NP_001350597.1:p.Leu281Arg