Canonical Allele Identifier: CA485782165
Gene: TINF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24709645C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240439C>T , CM000676.2:g.24240439C>T GRCh38
NC_000014.8:g.24709645C>T , CM000676.1:g.24709645C>T GRCh37
NC_000014.7:g.23779485C>T NCBI36
NG_016650.1:g.7236G>A
NG_054634.1:g.13023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1344G>A
ENST00000557921.3:c.933G>A ENSP00000453157.3:p.Leu311=
ENST00000699682.1:n.1431G>A
ENST00000699683.1:n.1481G>A
ENST00000699684.1:c.*634G>A ENSP00000514523.1:n.*634G>A
ENST00000699685.1:n.1245G>A
ENST00000699686.1:c.834G>A ENSP00000514524.1:p.Leu278=
ENST00000699687.1:c.936G>A ENSP00000514525.1:p.Leu312=
ENST00000699688.1:n.1241G>A
ENST00000699689.1:n.1597G>A
ENST00000699690.1:n.1794G>A
ENST00000699691.1:n.1938G>A
ENST00000699693.1:n.1458G>A
ENST00000699694.1:n.1700G>A
ENST00000699695.1:c.*413G>A ENSP00000514526.1:n.*413G>A
ENST00000699696.1:n.1344G>A
ENST00000699697.1:c.1041G>A ENSP00000514527.1:p.Leu347=
ENST00000699698.1:n.962G>A
ENST00000699699.1:n.1365G>A
ENST00000699700.1:n.1488G>A
ENST00000699701.1:c.*421G>A ENSP00000514528.1:n.*421G>A
ENST00000267415.12:c.1041G>A MANE Select ENSP00000267415.7:p.Leu347=
ENST00000646753.1:c.936G>A ENSP00000494065.1:p.Leu312=
ENST00000267415.11:c.1041G>A ENSP00000267415.7:p.Leu347=
ENST00000399423.8:c.1041G>A ENSP00000382350.4:p.Leu347=
ENST00000557915.1:n.160G>A
ENST00000558566.1:c.*413G>A ENSP00000453025.1:n.*413G>A
ENST00000559969.5:c.799G>A
ENST00000560019.5:c.36G>A ENSP00000453113.1:p.Leu12=
ENST00000626689.2:c.*413G>A ENSP00000486681.1:n.*413G>A
NM_001099274.1:c.1041G>A NP_001092744.1:p.Leu347=
NM_012461.2:c.1041G>A NP_036593.2:p.Leu347=
XM_005267528.2:c.1041G>A XP_005267585.1:p.Leu347=
XM_005267529.2:c.936G>A XP_005267586.1:p.Leu312=
NM_001099274.2:c.1041G>A NP_001092744.1:p.Leu347=
NM_001363668.1:c.936G>A NP_001350597.1:p.Leu312=
NM_012461.3:c.1041G>A NP_036593.2:p.Leu347=
XM_011536642.2:c.*421G>A XP_011534944.1:n.*421G>A
XM_017021216.2:c.399G>A XP_016876705.1:p.Leu133=
XM_017021217.1:c.399G>A XP_016876706.1:p.Leu133=
NM_001099274.3:c.1041G>A MANE Select NP_001092744.1:p.Leu347=
NM_001363668.2:c.936G>A NP_001350597.1:p.Leu312=