Canonical Allele Identifier: CA343182
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38921
ClinVar RCV Id: RCV000032172
dbSNP Id: rs199422313

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240632G>T , CM000676.2:g.24240632G>T GRCh38
NC_000014.8:g.24709838G>T , CM000676.1:g.24709838G>T GRCh37
NC_000014.7:g.23779678G>T NCBI36
NG_016650.1:g.7043C>A
NG_054634.1:g.13216G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1151C>A
ENST00000557921.3:c.740C>A ENSP00000453157.3:p.Pro247His
ENST00000699682.1:n.1238C>A
ENST00000699683.1:n.1288C>A
ENST00000699684.1:c.*441C>A ENSP00000514523.1:n.*441C>A
ENST00000699685.1:n.1052C>A
ENST00000699686.1:c.641C>A ENSP00000514524.1:p.Pro214His
ENST00000699687.1:c.743C>A ENSP00000514525.1:p.Pro248His
ENST00000699688.1:n.1048C>A
ENST00000699689.1:n.1404C>A
ENST00000699690.1:n.1601C>A
ENST00000699691.1:n.1745C>A
ENST00000699693.1:n.1265C>A
ENST00000699694.1:n.1507C>A
ENST00000699695.1:c.*220C>A ENSP00000514526.1:n.*220C>A
ENST00000699696.1:n.1151C>A
ENST00000699697.1:c.848C>A ENSP00000514527.1:p.Pro283His
ENST00000699698.1:n.769C>A
ENST00000699699.1:n.1172C>A
ENST00000699700.1:n.1295C>A
ENST00000699701.1:c.*228C>A ENSP00000514528.1:n.*228C>A
ENST00000267415.12:c.848C>A MANE Select ENSP00000267415.7:p.Pro283His
ENST00000557921.2:c.740C>A ENSP00000453157.2:p.Pro247His
ENST00000646753.1:c.743C>A ENSP00000494065.1:p.Pro248His
ENST00000267415.11:c.848C>A ENSP00000267415.7:p.Pro283His
ENST00000399423.8:c.848C>A ENSP00000382350.4:p.Pro283His
ENST00000558476.5:c.410C>A ENSP00000452724.1:p.Pro137His
ENST00000558566.1:c.*220C>A ENSP00000453025.1:n.*220C>A
ENST00000559019.1:c.*220C>A ENSP00000453675.1:n.*220C>A
ENST00000559549.1:n.574C>A
ENST00000559969.5:c.757+47C>A
ENST00000626689.2:c.*220C>A ENSP00000486681.1:n.*220C>A
NM_001099274.1:c.848C>A NP_001092744.1:p.Pro283His
NM_012461.2:c.848C>A NP_036593.2:p.Pro283His
XM_005267528.2:c.848C>A XP_005267585.1:p.Pro283His
XM_005267529.2:c.743C>A XP_005267586.1:p.Pro248His
NM_001099274.2:c.848C>A NP_001092744.1:p.Pro283His
NM_001363668.1:c.743C>A NP_001350597.1:p.Pro248His
NM_012461.3:c.848C>A NP_036593.2:p.Pro283His
XM_011536642.2:c.*228C>A XP_011534944.1:n.*228C>A
XM_017021216.2:c.206C>A XP_016876705.1:p.Pro69His
XM_017021217.1:c.206C>A XP_016876706.1:p.Pro69His
NM_001099274.3:c.848C>A MANE Select NP_001092744.1:p.Pro283His
NM_001363668.2:c.743C>A NP_001350597.1:p.Pro248His