Canonical Allele Identifier: CA2123849183
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240461A= , CM000676.2:g.24240461A= GRCh38
NC_000014.8:g.24709667A= , CM000676.1:g.24709667A= GRCh37
NC_000014.7:g.23779507A= NCBI36
NG_016650.1:g.7214T=
NG_054634.1:g.13045A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1322T=
ENST00000557921.3:c.911T= ENSP00000453157.3:p.Leu304=
ENST00000699682.1:n.1409T=
ENST00000699683.1:n.1459T=
ENST00000699684.1:c.*612T= ENSP00000514523.1:n.*612T=
ENST00000699685.1:n.1223T=
ENST00000699686.1:c.812T= ENSP00000514524.1:p.Leu271=
ENST00000699687.1:c.914T= ENSP00000514525.1:p.Leu305=
ENST00000699688.1:n.1219T=
ENST00000699689.1:n.1575T=
ENST00000699690.1:n.1772T=
ENST00000699691.1:n.1916T=
ENST00000699693.1:n.1436T=
ENST00000699694.1:n.1678T=
ENST00000699695.1:c.*391T= ENSP00000514526.1:n.*391T=
ENST00000699696.1:n.1322T=
ENST00000699697.1:c.1019T= ENSP00000514527.1:p.Leu340=
ENST00000699698.1:n.940T=
ENST00000699699.1:n.1343T=
ENST00000699700.1:n.1466T=
ENST00000699701.1:c.*399T= ENSP00000514528.1:n.*399T=
ENST00000267415.12:c.1019T= MANE Select ENSP00000267415.7:p.Leu340=
ENST00000646753.1:c.914T= ENSP00000494065.1:p.Leu305=
ENST00000267415.11:c.1019T= ENSP00000267415.7:p.Leu340=
ENST00000399423.8:c.1019T= ENSP00000382350.4:p.Leu340=
ENST00000557915.1:n.138T=
ENST00000558566.1:c.*391T= ENSP00000453025.1:n.*391T=
ENST00000559969.5:c.777T=
ENST00000560019.5:c.14T= ENSP00000453113.1:p.Leu5=
ENST00000626689.2:c.*391T= ENSP00000486681.1:n.*391T=
NM_001099274.1:c.1019T= NP_001092744.1:p.Leu340=
NM_012461.2:c.1019T= NP_036593.2:p.Leu340=
XM_005267528.2:c.1019T= XP_005267585.1:p.Leu340=
XM_005267529.2:c.914T= XP_005267586.1:p.Leu305=
NM_001099274.2:c.1019T= NP_001092744.1:p.Leu340=
NM_001363668.1:c.914T= NP_001350597.1:p.Leu305=
NM_012461.3:c.1019T= NP_036593.2:p.Leu340=
XM_011536642.2:c.*399T= XP_011534944.1:n.*399T=
XM_017021216.2:c.377T= XP_016876705.1:p.Leu126=
XM_017021217.1:c.377T= XP_016876706.1:p.Leu126=
NM_001099274.3:c.1019T= MANE Select NP_001092744.1:p.Leu340=
NM_001363668.2:c.914T= NP_001350597.1:p.Leu305=