Canonical Allele Identifier: CA389226947
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240753C>G , CM000676.2:g.24240753C>G GRCh38
NC_000014.8:g.24709959C>G , CM000676.1:g.24709959C>G GRCh37
NC_000014.7:g.23779799C>G NCBI36
NG_016650.1:g.6922G>C
NG_054634.1:g.13337C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1030G>C
ENST00000557921.3:c.619G>C ENSP00000453157.3:p.Gly207Arg
ENST00000699682.1:n.1117G>C
ENST00000699683.1:n.1167G>C
ENST00000699684.1:c.*320G>C ENSP00000514523.1:n.*320G>C
ENST00000699685.1:n.931G>C
ENST00000699686.1:c.520G>C ENSP00000514524.1:p.Gly174Arg
ENST00000699687.1:c.622G>C ENSP00000514525.1:p.Gly208Arg
ENST00000699688.1:n.927G>C
ENST00000699689.1:n.1283G>C
ENST00000699690.1:n.1480G>C
ENST00000699691.1:n.1624G>C
ENST00000699693.1:n.1144G>C
ENST00000699694.1:n.1386G>C
ENST00000699695.1:c.*99G>C ENSP00000514526.1:n.*99G>C
ENST00000699696.1:n.1030G>C
ENST00000699697.1:c.727G>C ENSP00000514527.1:p.Gly243Arg
ENST00000699698.1:n.648G>C
ENST00000699699.1:n.1051G>C
ENST00000699700.1:n.1174G>C
ENST00000699701.1:c.*107G>C ENSP00000514528.1:n.*107G>C
ENST00000267415.12:c.727G>C MANE Select ENSP00000267415.7:p.Gly243Arg
ENST00000557921.2:c.619G>C ENSP00000453157.2:p.Gly207Arg
ENST00000646753.1:c.622G>C ENSP00000494065.1:p.Gly208Arg
ENST00000267415.11:c.727G>C ENSP00000267415.7:p.Gly243Arg
ENST00000399423.8:c.727G>C ENSP00000382350.4:p.Gly243Arg
ENST00000558476.5:c.289G>C ENSP00000452724.1:p.Gly97Arg
ENST00000558566.1:c.*99G>C ENSP00000453025.1:n.*99G>C
ENST00000559019.1:c.*99G>C ENSP00000453675.1:n.*99G>C
ENST00000559549.1:n.453G>C
ENST00000559969.5:c.683G>C
ENST00000626689.2:c.*99G>C ENSP00000486681.1:n.*99G>C
NM_001099274.1:c.727G>C NP_001092744.1:p.Gly243Arg
NM_012461.2:c.727G>C NP_036593.2:p.Gly243Arg
XM_005267528.2:c.727G>C XP_005267585.1:p.Gly243Arg
XM_005267529.2:c.622G>C XP_005267586.1:p.Gly208Arg
NM_001099274.2:c.727G>C NP_001092744.1:p.Gly243Arg
NM_001363668.1:c.622G>C NP_001350597.1:p.Gly208Arg
NM_012461.3:c.727G>C NP_036593.2:p.Gly243Arg
XM_011536642.2:c.*107G>C XP_011534944.1:n.*107G>C
XM_017021216.2:c.85G>C XP_016876705.1:p.Gly29Arg
XM_017021217.1:c.85G>C XP_016876706.1:p.Gly29Arg
NM_001099274.3:c.727G>C MANE Select NP_001092744.1:p.Gly243Arg
NM_001363668.2:c.622G>C NP_001350597.1:p.Gly208Arg