Canonical Allele Identifier: CA389226740
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240734T>C , CM000676.2:g.24240734T>C GRCh38
NC_000014.8:g.24709940T>C , CM000676.1:g.24709940T>C GRCh37
NC_000014.7:g.23779780T>C NCBI36
NG_016650.1:g.6941A>G
NG_054634.1:g.13318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1049A>G
ENST00000557921.3:c.638A>G ENSP00000453157.3:p.His213Arg
ENST00000699682.1:n.1136A>G
ENST00000699683.1:n.1186A>G
ENST00000699684.1:c.*339A>G ENSP00000514523.1:n.*339A>G
ENST00000699685.1:n.950A>G
ENST00000699686.1:c.539A>G ENSP00000514524.1:p.His180Arg
ENST00000699687.1:c.641A>G ENSP00000514525.1:p.His214Arg
ENST00000699688.1:n.946A>G
ENST00000699689.1:n.1302A>G
ENST00000699690.1:n.1499A>G
ENST00000699691.1:n.1643A>G
ENST00000699693.1:n.1163A>G
ENST00000699694.1:n.1405A>G
ENST00000699695.1:c.*118A>G ENSP00000514526.1:n.*118A>G
ENST00000699696.1:n.1049A>G
ENST00000699697.1:c.746A>G ENSP00000514527.1:p.His249Arg
ENST00000699698.1:n.667A>G
ENST00000699699.1:n.1070A>G
ENST00000699700.1:n.1193A>G
ENST00000699701.1:c.*126A>G ENSP00000514528.1:n.*126A>G
ENST00000267415.12:c.746A>G MANE Select ENSP00000267415.7:p.His249Arg
ENST00000557921.2:c.638A>G ENSP00000453157.2:p.His213Arg
ENST00000646753.1:c.641A>G ENSP00000494065.1:p.His214Arg
ENST00000267415.11:c.746A>G ENSP00000267415.7:p.His249Arg
ENST00000399423.8:c.746A>G ENSP00000382350.4:p.His249Arg
ENST00000558476.5:c.308A>G ENSP00000452724.1:p.His103Arg
ENST00000558566.1:c.*118A>G ENSP00000453025.1:n.*118A>G
ENST00000559019.1:c.*118A>G ENSP00000453675.1:n.*118A>G
ENST00000559549.1:n.472A>G
ENST00000559969.5:c.702A>G
ENST00000626689.2:c.*118A>G ENSP00000486681.1:n.*118A>G
NM_001099274.1:c.746A>G NP_001092744.1:p.His249Arg
NM_012461.2:c.746A>G NP_036593.2:p.His249Arg
XM_005267528.2:c.746A>G XP_005267585.1:p.His249Arg
XM_005267529.2:c.641A>G XP_005267586.1:p.His214Arg
NM_001099274.2:c.746A>G NP_001092744.1:p.His249Arg
NM_001363668.1:c.641A>G NP_001350597.1:p.His214Arg
NM_012461.3:c.746A>G NP_036593.2:p.His249Arg
XM_011536642.2:c.*126A>G XP_011534944.1:n.*126A>G
XM_017021216.2:c.104A>G XP_016876705.1:p.His35Arg
XM_017021217.1:c.104A>G XP_016876706.1:p.His35Arg
NM_001099274.3:c.746A>G MANE Select NP_001092744.1:p.His249Arg
NM_001363668.2:c.641A>G NP_001350597.1:p.His214Arg