Canonical Allele Identifier: CA389226557
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240716C>A , CM000676.2:g.24240716C>A GRCh38
NC_000014.8:g.24709922C>A , CM000676.1:g.24709922C>A GRCh37
NC_000014.7:g.23779762C>A NCBI36
NG_016650.1:g.6959G>T
NG_054634.1:g.13300C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1067G>T
ENST00000557921.3:c.656G>T ENSP00000453157.3:p.Gly219Val
ENST00000699682.1:n.1154G>T
ENST00000699683.1:n.1204G>T
ENST00000699684.1:c.*357G>T ENSP00000514523.1:n.*357G>T
ENST00000699685.1:n.968G>T
ENST00000699686.1:c.557G>T ENSP00000514524.1:p.Gly186Val
ENST00000699687.1:c.659G>T ENSP00000514525.1:p.Gly220Val
ENST00000699688.1:n.964G>T
ENST00000699689.1:n.1320G>T
ENST00000699690.1:n.1517G>T
ENST00000699691.1:n.1661G>T
ENST00000699693.1:n.1181G>T
ENST00000699694.1:n.1423G>T
ENST00000699695.1:c.*136G>T ENSP00000514526.1:n.*136G>T
ENST00000699696.1:n.1067G>T
ENST00000699697.1:c.764G>T ENSP00000514527.1:p.Gly255Val
ENST00000699698.1:n.685G>T
ENST00000699699.1:n.1088G>T
ENST00000699700.1:n.1211G>T
ENST00000699701.1:c.*144G>T ENSP00000514528.1:n.*144G>T
ENST00000267415.12:c.764G>T MANE Select ENSP00000267415.7:p.Gly255Val
ENST00000557921.2:c.656G>T ENSP00000453157.2:p.Gly219Val
ENST00000646753.1:c.659G>T ENSP00000494065.1:p.Gly220Val
ENST00000267415.11:c.764G>T ENSP00000267415.7:p.Gly255Val
ENST00000399423.8:c.764G>T ENSP00000382350.4:p.Gly255Val
ENST00000558476.5:c.326G>T ENSP00000452724.1:p.Gly109Val
ENST00000558566.1:c.*136G>T ENSP00000453025.1:n.*136G>T
ENST00000559019.1:c.*136G>T ENSP00000453675.1:n.*136G>T
ENST00000559549.1:n.490G>T
ENST00000559969.5:c.720G>T
ENST00000626689.2:c.*136G>T ENSP00000486681.1:n.*136G>T
NM_001099274.1:c.764G>T NP_001092744.1:p.Gly255Val
NM_012461.2:c.764G>T NP_036593.2:p.Gly255Val
XM_005267528.2:c.764G>T XP_005267585.1:p.Gly255Val
XM_005267529.2:c.659G>T XP_005267586.1:p.Gly220Val
NM_001099274.2:c.764G>T NP_001092744.1:p.Gly255Val
NM_001363668.1:c.659G>T NP_001350597.1:p.Gly220Val
NM_012461.3:c.764G>T NP_036593.2:p.Gly255Val
XM_011536642.2:c.*144G>T XP_011534944.1:n.*144G>T
XM_017021216.2:c.122G>T XP_016876705.1:p.Gly41Val
XM_017021217.1:c.122G>T XP_016876706.1:p.Gly41Val
NM_001099274.3:c.764G>T MANE Select NP_001092744.1:p.Gly255Val
NM_001363668.2:c.659G>T NP_001350597.1:p.Gly220Val