Canonical Allele Identifier: CA389224615
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240551G>T , CM000676.2:g.24240551G>T GRCh38
NC_000014.8:g.24709757G>T , CM000676.1:g.24709757G>T GRCh37
NC_000014.7:g.23779597G>T NCBI36
NG_016650.1:g.7124C>A
NG_054634.1:g.13135G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1232C>A
ENST00000557921.3:c.821C>A ENSP00000453157.3:p.Ala274Glu
ENST00000699682.1:n.1319C>A
ENST00000699683.1:n.1369C>A
ENST00000699684.1:c.*522C>A ENSP00000514523.1:n.*522C>A
ENST00000699685.1:n.1133C>A
ENST00000699686.1:c.722C>A ENSP00000514524.1:p.Ala241Glu
ENST00000699687.1:c.824C>A ENSP00000514525.1:p.Ala275Glu
ENST00000699688.1:n.1129C>A
ENST00000699689.1:n.1485C>A
ENST00000699690.1:n.1682C>A
ENST00000699691.1:n.1826C>A
ENST00000699693.1:n.1346C>A
ENST00000699694.1:n.1588C>A
ENST00000699695.1:c.*301C>A ENSP00000514526.1:n.*301C>A
ENST00000699696.1:n.1232C>A
ENST00000699697.1:c.929C>A ENSP00000514527.1:p.Ala310Glu
ENST00000699698.1:n.850C>A
ENST00000699699.1:n.1253C>A
ENST00000699700.1:n.1376C>A
ENST00000699701.1:c.*309C>A ENSP00000514528.1:n.*309C>A
ENST00000267415.12:c.929C>A MANE Select ENSP00000267415.7:p.Ala310Glu
ENST00000557921.2:c.821C>A ENSP00000453157.2:p.Ala274Glu
ENST00000646753.1:c.824C>A ENSP00000494065.1:p.Ala275Glu
ENST00000267415.11:c.929C>A ENSP00000267415.7:p.Ala310Glu
ENST00000399423.8:c.929C>A ENSP00000382350.4:p.Ala310Glu
ENST00000557915.1:n.48C>A
ENST00000558566.1:c.*301C>A ENSP00000453025.1:n.*301C>A
ENST00000559019.1:c.*301C>A ENSP00000453675.1:n.*301C>A
ENST00000559969.5:c.758-71C>A
ENST00000626689.2:c.*301C>A ENSP00000486681.1:n.*301C>A
NM_001099274.1:c.929C>A NP_001092744.1:p.Ala310Glu
NM_012461.2:c.929C>A NP_036593.2:p.Ala310Glu
XM_005267528.2:c.929C>A XP_005267585.1:p.Ala310Glu
XM_005267529.2:c.824C>A XP_005267586.1:p.Ala275Glu
NM_001099274.2:c.929C>A NP_001092744.1:p.Ala310Glu
NM_001363668.1:c.824C>A NP_001350597.1:p.Ala275Glu
NM_012461.3:c.929C>A NP_036593.2:p.Ala310Glu
XM_011536642.2:c.*309C>A XP_011534944.1:n.*309C>A
XM_017021216.2:c.287C>A XP_016876705.1:p.Ala96Glu
XM_017021217.1:c.287C>A XP_016876706.1:p.Ala96Glu
NM_001099274.3:c.929C>A MANE Select NP_001092744.1:p.Ala310Glu
NM_001363668.2:c.824C>A NP_001350597.1:p.Ala275Glu