Canonical Allele Identifier: CA389225513
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1151C>G
ENST00000557921.3:c.740C>G ENSP00000453157.3:p.Pro247Arg
ENST00000699682.1:n.1238C>G
ENST00000699683.1:n.1288C>G
ENST00000699684.1:c.*441C>G ENSP00000514523.1:n.*441C>G
ENST00000699685.1:n.1052C>G
ENST00000699686.1:c.641C>G ENSP00000514524.1:p.Pro214Arg
ENST00000699687.1:c.743C>G ENSP00000514525.1:p.Pro248Arg
ENST00000699688.1:n.1048C>G
ENST00000699689.1:n.1404C>G
ENST00000699690.1:n.1601C>G
ENST00000699691.1:n.1745C>G
ENST00000699693.1:n.1265C>G
ENST00000699694.1:n.1507C>G
ENST00000699695.1:c.*220C>G ENSP00000514526.1:n.*220C>G
ENST00000699696.1:n.1151C>G
ENST00000699697.1:c.848C>G ENSP00000514527.1:p.Pro283Arg
ENST00000699698.1:n.769C>G
ENST00000699699.1:n.1172C>G
ENST00000699700.1:n.1295C>G
ENST00000699701.1:c.*228C>G ENSP00000514528.1:n.*228C>G
ENST00000267415.12:c.848C>G MANE Select ENSP00000267415.7:p.Pro283Arg
ENST00000557921.2:c.740C>G ENSP00000453157.2:p.Pro247Arg
ENST00000646753.1:c.743C>G ENSP00000494065.1:p.Pro248Arg
ENST00000267415.11:c.848C>G ENSP00000267415.7:p.Pro283Arg
ENST00000399423.8:c.848C>G ENSP00000382350.4:p.Pro283Arg
ENST00000558476.5:c.410C>G ENSP00000452724.1:p.Pro137Arg
ENST00000558566.1:c.*220C>G ENSP00000453025.1:n.*220C>G
ENST00000559019.1:c.*220C>G ENSP00000453675.1:n.*220C>G
ENST00000559549.1:n.574C>G
ENST00000559969.5:c.757+47C>G
ENST00000626689.2:c.*220C>G ENSP00000486681.1:n.*220C>G
NM_001099274.1:c.848C>G NP_001092744.1:p.Pro283Arg
NM_012461.2:c.848C>G NP_036593.2:p.Pro283Arg
XM_005267528.2:c.848C>G XP_005267585.1:p.Pro283Arg
XM_005267529.2:c.743C>G XP_005267586.1:p.Pro248Arg
NM_001099274.2:c.848C>G NP_001092744.1:p.Pro283Arg
NM_001363668.1:c.743C>G NP_001350597.1:p.Pro248Arg
NM_012461.3:c.848C>G NP_036593.2:p.Pro283Arg
XM_011536642.2:c.*228C>G XP_011534944.1:n.*228C>G
XM_017021216.2:c.206C>G XP_016876705.1:p.Pro69Arg
XM_017021217.1:c.206C>G XP_016876706.1:p.Pro69Arg
NM_001099274.3:c.848C>G MANE Select NP_001092744.1:p.Pro283Arg
NM_001363668.2:c.743C>G NP_001350597.1:p.Pro248Arg