Canonical Allele Identifier: CA389225873
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240660A>C , CM000676.2:g.24240660A>C GRCh38
NC_000014.8:g.24709866A>C , CM000676.1:g.24709866A>C GRCh37
NC_000014.7:g.23779706A>C NCBI36
NG_016650.1:g.7015T>G
NG_054634.1:g.13244A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1123T>G
ENST00000557921.3:c.712T>G ENSP00000453157.3:p.Ser238Ala
ENST00000699682.1:n.1210T>G
ENST00000699683.1:n.1260T>G
ENST00000699684.1:c.*413T>G ENSP00000514523.1:n.*413T>G
ENST00000699685.1:n.1024T>G
ENST00000699686.1:c.613T>G ENSP00000514524.1:p.Ser205Ala
ENST00000699687.1:c.715T>G ENSP00000514525.1:p.Ser239Ala
ENST00000699688.1:n.1020T>G
ENST00000699689.1:n.1376T>G
ENST00000699690.1:n.1573T>G
ENST00000699691.1:n.1717T>G
ENST00000699693.1:n.1237T>G
ENST00000699694.1:n.1479T>G
ENST00000699695.1:c.*192T>G ENSP00000514526.1:n.*192T>G
ENST00000699696.1:n.1123T>G
ENST00000699697.1:c.820T>G ENSP00000514527.1:p.Ser274Ala
ENST00000699698.1:n.741T>G
ENST00000699699.1:n.1144T>G
ENST00000699700.1:n.1267T>G
ENST00000699701.1:c.*200T>G ENSP00000514528.1:n.*200T>G
ENST00000267415.12:c.820T>G MANE Select ENSP00000267415.7:p.Ser274Ala
ENST00000557921.2:c.712T>G ENSP00000453157.2:p.Ser238Ala
ENST00000646753.1:c.715T>G ENSP00000494065.1:p.Ser239Ala
ENST00000267415.11:c.820T>G ENSP00000267415.7:p.Ser274Ala
ENST00000399423.8:c.820T>G ENSP00000382350.4:p.Ser274Ala
ENST00000558476.5:c.382T>G ENSP00000452724.1:p.Ser128Ala
ENST00000558566.1:c.*192T>G ENSP00000453025.1:n.*192T>G
ENST00000559019.1:c.*192T>G ENSP00000453675.1:n.*192T>G
ENST00000559549.1:n.546T>G
ENST00000559969.5:c.757+19T>G
ENST00000626689.2:c.*192T>G ENSP00000486681.1:n.*192T>G
NM_001099274.1:c.820T>G NP_001092744.1:p.Ser274Ala
NM_012461.2:c.820T>G NP_036593.2:p.Ser274Ala
XM_005267528.2:c.820T>G XP_005267585.1:p.Ser274Ala
XM_005267529.2:c.715T>G XP_005267586.1:p.Ser239Ala
NM_001099274.2:c.820T>G NP_001092744.1:p.Ser274Ala
NM_001363668.1:c.715T>G NP_001350597.1:p.Ser239Ala
NM_012461.3:c.820T>G NP_036593.2:p.Ser274Ala
XM_011536642.2:c.*200T>G XP_011534944.1:n.*200T>G
XM_017021216.2:c.178T>G XP_016876705.1:p.Ser60Ala
XM_017021217.1:c.178T>G XP_016876706.1:p.Ser60Ala
NM_001099274.3:c.820T>G MANE Select NP_001092744.1:p.Ser274Ala
NM_001363668.2:c.715T>G NP_001350597.1:p.Ser239Ala