Canonical Allele Identifier: CA389226981
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240758G>T , CM000676.2:g.24240758G>T GRCh38
NC_000014.8:g.24709964G>T , CM000676.1:g.24709964G>T GRCh37
NC_000014.7:g.23779804G>T NCBI36
NG_016650.1:g.6917C>A
NG_054634.1:g.13342G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1025C>A
ENST00000557921.3:c.614C>A ENSP00000453157.3:p.Pro205His
ENST00000699682.1:n.1112C>A
ENST00000699683.1:n.1162C>A
ENST00000699684.1:c.*315C>A ENSP00000514523.1:n.*315C>A
ENST00000699685.1:n.926C>A
ENST00000699686.1:c.515C>A ENSP00000514524.1:p.Pro172His
ENST00000699687.1:c.617C>A ENSP00000514525.1:p.Pro206His
ENST00000699688.1:n.922C>A
ENST00000699689.1:n.1278C>A
ENST00000699690.1:n.1475C>A
ENST00000699691.1:n.1619C>A
ENST00000699693.1:n.1139C>A
ENST00000699694.1:n.1381C>A
ENST00000699695.1:c.*94C>A ENSP00000514526.1:n.*94C>A
ENST00000699696.1:n.1025C>A
ENST00000699697.1:c.722C>A ENSP00000514527.1:p.Pro241His
ENST00000699698.1:n.643C>A
ENST00000699699.1:n.1046C>A
ENST00000699700.1:n.1169C>A
ENST00000699701.1:c.*102C>A ENSP00000514528.1:n.*102C>A
ENST00000267415.12:c.722C>A MANE Select ENSP00000267415.7:p.Pro241His
ENST00000557921.2:c.614C>A ENSP00000453157.2:p.Pro205His
ENST00000646753.1:c.617C>A ENSP00000494065.1:p.Pro206His
ENST00000267415.11:c.722C>A ENSP00000267415.7:p.Pro241His
ENST00000399423.8:c.722C>A ENSP00000382350.4:p.Pro241His
ENST00000558476.5:c.284C>A ENSP00000452724.1:p.Pro95His
ENST00000558566.1:c.*94C>A ENSP00000453025.1:n.*94C>A
ENST00000559019.1:c.*94C>A ENSP00000453675.1:n.*94C>A
ENST00000559549.1:n.448C>A
ENST00000559969.5:c.678C>A
ENST00000626689.2:c.*94C>A ENSP00000486681.1:n.*94C>A
NM_001099274.1:c.722C>A NP_001092744.1:p.Pro241His
NM_012461.2:c.722C>A NP_036593.2:p.Pro241His
XM_005267528.2:c.722C>A XP_005267585.1:p.Pro241His
XM_005267529.2:c.617C>A XP_005267586.1:p.Pro206His
NM_001099274.2:c.722C>A NP_001092744.1:p.Pro241His
NM_001363668.1:c.617C>A NP_001350597.1:p.Pro206His
NM_012461.3:c.722C>A NP_036593.2:p.Pro241His
XM_011536642.2:c.*102C>A XP_011534944.1:n.*102C>A
XM_017021216.2:c.80C>A XP_016876705.1:p.Pro27His
XM_017021217.1:c.80C>A XP_016876706.1:p.Pro27His
NM_001099274.3:c.722C>A MANE Select NP_001092744.1:p.Pro241His
NM_001363668.2:c.617C>A NP_001350597.1:p.Pro206His