Canonical Allele Identifier: CA485782080
Gene: TINF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24709789G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240583G>T , CM000676.2:g.24240583G>T GRCh38
NC_000014.8:g.24709789G>T , CM000676.1:g.24709789G>T GRCh37
NC_000014.7:g.23779629G>T NCBI36
NG_016650.1:g.7092C>A
NG_054634.1:g.13167G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1200C>A
ENST00000557921.3:c.789C>A ENSP00000453157.3:p.Val263=
ENST00000699682.1:n.1287C>A
ENST00000699683.1:n.1337C>A
ENST00000699684.1:c.*490C>A ENSP00000514523.1:n.*490C>A
ENST00000699685.1:n.1101C>A
ENST00000699686.1:c.690C>A ENSP00000514524.1:p.Val230=
ENST00000699687.1:c.792C>A ENSP00000514525.1:p.Val264=
ENST00000699688.1:n.1097C>A
ENST00000699689.1:n.1453C>A
ENST00000699690.1:n.1650C>A
ENST00000699691.1:n.1794C>A
ENST00000699693.1:n.1314C>A
ENST00000699694.1:n.1556C>A
ENST00000699695.1:c.*269C>A ENSP00000514526.1:n.*269C>A
ENST00000699696.1:n.1200C>A
ENST00000699697.1:c.897C>A ENSP00000514527.1:p.Val299=
ENST00000699698.1:n.818C>A
ENST00000699699.1:n.1221C>A
ENST00000699700.1:n.1344C>A
ENST00000699701.1:c.*277C>A ENSP00000514528.1:n.*277C>A
ENST00000267415.12:c.897C>A MANE Select ENSP00000267415.7:p.Val299=
ENST00000557921.2:c.789C>A ENSP00000453157.2:p.Val263=
ENST00000646753.1:c.792C>A ENSP00000494065.1:p.Val264=
ENST00000267415.11:c.897C>A ENSP00000267415.7:p.Val299=
ENST00000399423.8:c.897C>A ENSP00000382350.4:p.Val299=
ENST00000557915.1:n.16C>A
ENST00000558566.1:c.*269C>A ENSP00000453025.1:n.*269C>A
ENST00000559019.1:c.*269C>A ENSP00000453675.1:n.*269C>A
ENST00000559549.1:n.623C>A
ENST00000559969.5:c.757+96C>A
ENST00000626689.2:c.*269C>A ENSP00000486681.1:n.*269C>A
NM_001099274.1:c.897C>A NP_001092744.1:p.Val299=
NM_012461.2:c.897C>A NP_036593.2:p.Val299=
XM_005267528.2:c.897C>A XP_005267585.1:p.Val299=
XM_005267529.2:c.792C>A XP_005267586.1:p.Val264=
NM_001099274.2:c.897C>A NP_001092744.1:p.Val299=
NM_001363668.1:c.792C>A NP_001350597.1:p.Val264=
NM_012461.3:c.897C>A NP_036593.2:p.Val299=
XM_011536642.2:c.*277C>A XP_011534944.1:n.*277C>A
XM_017021216.2:c.255C>A XP_016876705.1:p.Val85=
XM_017021217.1:c.255C>A XP_016876706.1:p.Val85=
NM_001099274.3:c.897C>A MANE Select NP_001092744.1:p.Val299=
NM_001363668.2:c.792C>A NP_001350597.1:p.Val264=