Canonical Allele Identifier: CA389223546
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240446A>C , CM000676.2:g.24240446A>C GRCh38
NC_000014.8:g.24709652A>C , CM000676.1:g.24709652A>C GRCh37
NC_000014.7:g.23779492A>C NCBI36
NG_016650.1:g.7229T>G
NG_054634.1:g.13030A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1337T>G
ENST00000557921.3:c.926T>G ENSP00000453157.3:p.Val309Gly
ENST00000699682.1:n.1424T>G
ENST00000699683.1:n.1474T>G
ENST00000699684.1:c.*627T>G ENSP00000514523.1:n.*627T>G
ENST00000699685.1:n.1238T>G
ENST00000699686.1:c.827T>G ENSP00000514524.1:p.Val276Gly
ENST00000699687.1:c.929T>G ENSP00000514525.1:p.Val310Gly
ENST00000699688.1:n.1234T>G
ENST00000699689.1:n.1590T>G
ENST00000699690.1:n.1787T>G
ENST00000699691.1:n.1931T>G
ENST00000699693.1:n.1451T>G
ENST00000699694.1:n.1693T>G
ENST00000699695.1:c.*406T>G ENSP00000514526.1:n.*406T>G
ENST00000699696.1:n.1337T>G
ENST00000699697.1:c.1034T>G ENSP00000514527.1:p.Val345Gly
ENST00000699698.1:n.955T>G
ENST00000699699.1:n.1358T>G
ENST00000699700.1:n.1481T>G
ENST00000699701.1:c.*414T>G ENSP00000514528.1:n.*414T>G
ENST00000267415.12:c.1034T>G MANE Select ENSP00000267415.7:p.Val345Gly
ENST00000646753.1:c.929T>G ENSP00000494065.1:p.Val310Gly
ENST00000267415.11:c.1034T>G ENSP00000267415.7:p.Val345Gly
ENST00000399423.8:c.1034T>G ENSP00000382350.4:p.Val345Gly
ENST00000557915.1:n.153T>G
ENST00000558566.1:c.*406T>G ENSP00000453025.1:n.*406T>G
ENST00000559969.5:c.792T>G
ENST00000560019.5:c.29T>G ENSP00000453113.1:p.Val10Gly
ENST00000626689.2:c.*406T>G ENSP00000486681.1:n.*406T>G
NM_001099274.1:c.1034T>G NP_001092744.1:p.Val345Gly
NM_012461.2:c.1034T>G NP_036593.2:p.Val345Gly
XM_005267528.2:c.1034T>G XP_005267585.1:p.Val345Gly
XM_005267529.2:c.929T>G XP_005267586.1:p.Val310Gly
NM_001099274.2:c.1034T>G NP_001092744.1:p.Val345Gly
NM_001363668.1:c.929T>G NP_001350597.1:p.Val310Gly
NM_012461.3:c.1034T>G NP_036593.2:p.Val345Gly
XM_011536642.2:c.*414T>G XP_011534944.1:n.*414T>G
XM_017021216.2:c.392T>G XP_016876705.1:p.Val131Gly
XM_017021217.1:c.392T>G XP_016876706.1:p.Val131Gly
NM_001099274.3:c.1034T>G MANE Select NP_001092744.1:p.Val345Gly
NM_001363668.2:c.929T>G NP_001350597.1:p.Val310Gly