Canonical Allele Identifier: CA389223859
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240483G>T , CM000676.2:g.24240483G>T GRCh38
NC_000014.8:g.24709689G>T , CM000676.1:g.24709689G>T GRCh37
NC_000014.7:g.23779529G>T NCBI36
NG_016650.1:g.7192C>A
NG_054634.1:g.13067G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1300C>A
ENST00000557921.3:c.889C>A ENSP00000453157.3:p.Gln297Lys
ENST00000699682.1:n.1387C>A
ENST00000699683.1:n.1437C>A
ENST00000699684.1:c.*590C>A ENSP00000514523.1:n.*590C>A
ENST00000699685.1:n.1201C>A
ENST00000699686.1:c.790C>A ENSP00000514524.1:p.Gln264Lys
ENST00000699687.1:c.892C>A ENSP00000514525.1:p.Gln298Lys
ENST00000699688.1:n.1197C>A
ENST00000699689.1:n.1553C>A
ENST00000699690.1:n.1750C>A
ENST00000699691.1:n.1894C>A
ENST00000699693.1:n.1414C>A
ENST00000699694.1:n.1656C>A
ENST00000699695.1:c.*369C>A ENSP00000514526.1:n.*369C>A
ENST00000699696.1:n.1300C>A
ENST00000699697.1:c.997C>A ENSP00000514527.1:p.Gln333Lys
ENST00000699698.1:n.918C>A
ENST00000699699.1:n.1321C>A
ENST00000699700.1:n.1444C>A
ENST00000699701.1:c.*377C>A ENSP00000514528.1:n.*377C>A
ENST00000267415.12:c.997C>A MANE Select ENSP00000267415.7:p.Gln333Lys
ENST00000646753.1:c.892C>A ENSP00000494065.1:p.Gln298Lys
ENST00000267415.11:c.997C>A ENSP00000267415.7:p.Gln333Lys
ENST00000399423.8:c.997C>A ENSP00000382350.4:p.Gln333Lys
ENST00000557915.1:n.116C>A
ENST00000558566.1:c.*369C>A ENSP00000453025.1:n.*369C>A
ENST00000559019.1:c.*369C>A ENSP00000453675.1:n.*369C>A
ENST00000559969.5:c.758-3C>A
ENST00000626689.2:c.*369C>A ENSP00000486681.1:n.*369C>A
NM_001099274.1:c.997C>A NP_001092744.1:p.Gln333Lys
NM_012461.2:c.997C>A NP_036593.2:p.Gln333Lys
XM_005267528.2:c.997C>A XP_005267585.1:p.Gln333Lys
XM_005267529.2:c.892C>A XP_005267586.1:p.Gln298Lys
NM_001099274.2:c.997C>A NP_001092744.1:p.Gln333Lys
NM_001363668.1:c.892C>A NP_001350597.1:p.Gln298Lys
NM_012461.3:c.997C>A NP_036593.2:p.Gln333Lys
XM_011536642.2:c.*377C>A XP_011534944.1:n.*377C>A
XM_017021216.2:c.355C>A XP_016876705.1:p.Gln119Lys
XM_017021217.1:c.355C>A XP_016876706.1:p.Gln119Lys
NM_001099274.3:c.997C>A MANE Select NP_001092744.1:p.Gln333Lys
NM_001363668.2:c.892C>A NP_001350597.1:p.Gln298Lys