Canonical Allele Identifier: CA2123848875
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240302G= , CM000676.2:g.24240302G= GRCh38
NC_000014.8:g.24709508G= , CM000676.1:g.24709508G= GRCh37
NC_000014.7:g.23779348G= NCBI36
NG_016650.1:g.7373C=
NG_054634.1:g.12886G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1481C=
ENST00000557921.3:c.*113C= ENSP00000453157.3:n.*113C=
ENST00000699682.1:n.1568C=
ENST00000699683.1:n.1618C=
ENST00000699684.1:c.*771C= ENSP00000514523.1:n.*771C=
ENST00000699685.1:n.1382C=
ENST00000699686.1:c.*113C= ENSP00000514524.1:n.*113C=
ENST00000699687.1:c.*113C= ENSP00000514525.1:n.*113C=
ENST00000699688.1:n.1378C=
ENST00000699689.1:n.1734C=
ENST00000699690.1:n.1931C=
ENST00000699691.1:n.2075C=
ENST00000699692.1:n.29C=
ENST00000699693.1:n.1507C=
ENST00000699694.1:n.1837C=
ENST00000699695.1:c.*462C= ENSP00000514526.1:n.*462C=
ENST00000699696.1:n.1481C=
ENST00000699697.1:c.1090C= ENSP00000514527.1:p.Leu364=
ENST00000699698.1:n.1011C=
ENST00000699699.1:n.1502C=
ENST00000699700.1:n.1625C=
ENST00000699701.1:c.*558C= ENSP00000514528.1:n.*558C=
ENST00000267415.12:c.1090C= MANE Select ENSP00000267415.7:p.Leu364=
ENST00000646753.1:c.985C= ENSP00000494065.1:p.Leu329=
ENST00000267415.11:c.1090C= ENSP00000267415.7:p.Leu364=
ENST00000399423.8:c.*113C= ENSP00000382350.4:n.*113C=
ENST00000557915.1:n.297C=
ENST00000558566.1:c.*550C= ENSP00000453025.1:n.*550C=
ENST00000559969.5:c.936C=
ENST00000560019.5:c.85C= ENSP00000453113.1:p.Leu29=
ENST00000626689.2:c.*462C= ENSP00000486681.1:n.*462C=
NM_001099274.1:c.1090C= NP_001092744.1:p.Leu364=
NM_012461.2:c.*113C= NP_036593.2:n.*113C=
XM_005267528.2:c.1090C= XP_005267585.1:p.Leu364=
XM_005267529.2:c.985C= XP_005267586.1:p.Leu329=
NM_001099274.2:c.1090C= NP_001092744.1:p.Leu364=
NM_001363668.1:c.985C= NP_001350597.1:p.Leu329=
NM_012461.3:c.*113C= NP_036593.2:n.*113C=
XM_011536642.2:c.*558C= XP_011534944.1:n.*558C=
XM_017021216.2:c.448C= XP_016876705.1:p.Leu150=
XM_017021217.1:c.448C= XP_016876706.1:p.Leu150=
NM_001099274.3:c.1090C= MANE Select NP_001092744.1:p.Leu364=
NM_001363668.2:c.985C= NP_001350597.1:p.Leu329=