Canonical Allele Identifier: CA389225054

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709793T>A (hg19) ; chr14:g.24240587T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240587T>A , CM000676.2:g.24240587T>A	GRCh38
NC_000014.8:g.24709793T>A , CM000676.1:g.24709793T>A	GRCh37
NC_000014.7:g.23779633T>A	NCBI36
NG_016650.1:g.7088A>T
NG_054634.1:g.13171T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1196A>T
ENST00000557921.3:c.785A>T	ENSP00000453157.3:p.Gln262Leu
ENST00000699682.1:n.1283A>T
ENST00000699683.1:n.1333A>T
ENST00000699684.1:c.*486A>T	ENSP00000514523.1:n.*486A>T
ENST00000699685.1:n.1097A>T
ENST00000699686.1:c.686A>T	ENSP00000514524.1:p.Gln229Leu
ENST00000699687.1:c.788A>T	ENSP00000514525.1:p.Gln263Leu
ENST00000699688.1:n.1093A>T
ENST00000699689.1:n.1449A>T
ENST00000699690.1:n.1646A>T
ENST00000699691.1:n.1790A>T
ENST00000699693.1:n.1310A>T
ENST00000699694.1:n.1552A>T
ENST00000699695.1:c.*265A>T	ENSP00000514526.1:n.*265A>T
ENST00000699696.1:n.1196A>T
ENST00000699697.1:c.893A>T	ENSP00000514527.1:p.Gln298Leu
ENST00000699698.1:n.814A>T
ENST00000699699.1:n.1217A>T
ENST00000699700.1:n.1340A>T
ENST00000699701.1:c.*273A>T	ENSP00000514528.1:n.*273A>T
ENST00000267415.12:c.893A>T MANE Select	ENSP00000267415.7:p.Gln298Leu
ENST00000557921.2:c.785A>T	ENSP00000453157.2:p.Gln262Leu
ENST00000646753.1:c.788A>T	ENSP00000494065.1:p.Gln263Leu
ENST00000267415.11:c.893A>T	ENSP00000267415.7:p.Gln298Leu
ENST00000399423.8:c.893A>T	ENSP00000382350.4:p.Gln298Leu
ENST00000557915.1:n.12A>T
ENST00000558566.1:c.*265A>T	ENSP00000453025.1:n.*265A>T
ENST00000559019.1:c.*265A>T	ENSP00000453675.1:n.*265A>T
ENST00000559549.1:n.619A>T
ENST00000559969.5:c.757+92A>T
ENST00000626689.2:c.*265A>T	ENSP00000486681.1:n.*265A>T
NM_001099274.1:c.893A>T	NP_001092744.1:p.Gln298Leu
NM_012461.2:c.893A>T	NP_036593.2:p.Gln298Leu
XM_005267528.2:c.893A>T	XP_005267585.1:p.Gln298Leu
XM_005267529.2:c.788A>T	XP_005267586.1:p.Gln263Leu
NM_001099274.2:c.893A>T	NP_001092744.1:p.Gln298Leu
NM_001363668.1:c.788A>T	NP_001350597.1:p.Gln263Leu
NM_012461.3:c.893A>T	NP_036593.2:p.Gln298Leu
XM_011536642.2:c.*273A>T	XP_011534944.1:n.*273A>T
XM_017021216.2:c.251A>T	XP_016876705.1:p.Gln84Leu
XM_017021217.1:c.251A>T	XP_016876706.1:p.Gln84Leu
NM_001099274.3:c.893A>T MANE Select	NP_001092744.1:p.Gln298Leu
NM_001363668.2:c.788A>T	NP_001350597.1:p.Gln263Leu