Canonical Allele Identifier: CA389224264
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240526C>T , CM000676.2:g.24240526C>T GRCh38
NC_000014.8:g.24709732C>T , CM000676.1:g.24709732C>T GRCh37
NC_000014.7:g.23779572C>T NCBI36
NG_016650.1:g.7149G>A
NG_054634.1:g.13110C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1257G>A
ENST00000557921.3:c.846G>A ENSP00000453157.3:p.Met282Ile
ENST00000699682.1:n.1344G>A
ENST00000699683.1:n.1394G>A
ENST00000699684.1:c.*547G>A ENSP00000514523.1:n.*547G>A
ENST00000699685.1:n.1158G>A
ENST00000699686.1:c.747G>A ENSP00000514524.1:p.Met249Ile
ENST00000699687.1:c.849G>A ENSP00000514525.1:p.Met283Ile
ENST00000699688.1:n.1154G>A
ENST00000699689.1:n.1510G>A
ENST00000699690.1:n.1707G>A
ENST00000699691.1:n.1851G>A
ENST00000699693.1:n.1371G>A
ENST00000699694.1:n.1613G>A
ENST00000699695.1:c.*326G>A ENSP00000514526.1:n.*326G>A
ENST00000699696.1:n.1257G>A
ENST00000699697.1:c.954G>A ENSP00000514527.1:p.Met318Ile
ENST00000699698.1:n.875G>A
ENST00000699699.1:n.1278G>A
ENST00000699700.1:n.1401G>A
ENST00000699701.1:c.*334G>A ENSP00000514528.1:n.*334G>A
ENST00000267415.12:c.954G>A MANE Select ENSP00000267415.7:p.Met318Ile
ENST00000557921.2:c.846G>A ENSP00000453157.2:p.Met282Ile
ENST00000646753.1:c.849G>A ENSP00000494065.1:p.Met283Ile
ENST00000267415.11:c.954G>A ENSP00000267415.7:p.Met318Ile
ENST00000399423.8:c.954G>A ENSP00000382350.4:p.Met318Ile
ENST00000557915.1:n.73G>A
ENST00000558566.1:c.*326G>A ENSP00000453025.1:n.*326G>A
ENST00000559019.1:c.*326G>A ENSP00000453675.1:n.*326G>A
ENST00000559969.5:c.758-46G>A
ENST00000626689.2:c.*326G>A ENSP00000486681.1:n.*326G>A
NM_001099274.1:c.954G>A NP_001092744.1:p.Met318Ile
NM_012461.2:c.954G>A NP_036593.2:p.Met318Ile
XM_005267528.2:c.954G>A XP_005267585.1:p.Met318Ile
XM_005267529.2:c.849G>A XP_005267586.1:p.Met283Ile
NM_001099274.2:c.954G>A NP_001092744.1:p.Met318Ile
NM_001363668.1:c.849G>A NP_001350597.1:p.Met283Ile
NM_012461.3:c.954G>A NP_036593.2:p.Met318Ile
XM_011536642.2:c.*334G>A XP_011534944.1:n.*334G>A
XM_017021216.2:c.312G>A XP_016876705.1:p.Met104Ile
XM_017021217.1:c.312G>A XP_016876706.1:p.Met104Ile
NM_001099274.3:c.954G>A MANE Select NP_001092744.1:p.Met318Ile
NM_001363668.2:c.849G>A NP_001350597.1:p.Met283Ile