Canonical Allele Identifier: CA389227017
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240764T>C , CM000676.2:g.24240764T>C GRCh38
NC_000014.8:g.24709970T>C , CM000676.1:g.24709970T>C GRCh37
NC_000014.7:g.23779810T>C NCBI36
NG_016650.1:g.6911A>G
NG_054634.1:g.13348T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1019A>G
ENST00000557921.3:c.608A>G ENSP00000453157.3:p.His203Arg
ENST00000699682.1:n.1106A>G
ENST00000699683.1:n.1156A>G
ENST00000699684.1:c.*309A>G ENSP00000514523.1:n.*309A>G
ENST00000699685.1:n.920A>G
ENST00000699686.1:c.509A>G ENSP00000514524.1:p.His170Arg
ENST00000699687.1:c.611A>G ENSP00000514525.1:p.His204Arg
ENST00000699688.1:n.916A>G
ENST00000699689.1:n.1272A>G
ENST00000699690.1:n.1469A>G
ENST00000699691.1:n.1613A>G
ENST00000699693.1:n.1133A>G
ENST00000699694.1:n.1375A>G
ENST00000699695.1:c.*88A>G ENSP00000514526.1:n.*88A>G
ENST00000699696.1:n.1019A>G
ENST00000699697.1:c.716A>G ENSP00000514527.1:p.His239Arg
ENST00000699698.1:n.637A>G
ENST00000699699.1:n.1040A>G
ENST00000699700.1:n.1163A>G
ENST00000699701.1:c.*96A>G ENSP00000514528.1:n.*96A>G
ENST00000267415.12:c.716A>G MANE Select ENSP00000267415.7:p.His239Arg
ENST00000557921.2:c.608A>G ENSP00000453157.2:p.His203Arg
ENST00000646753.1:c.611A>G ENSP00000494065.1:p.His204Arg
ENST00000267415.11:c.716A>G ENSP00000267415.7:p.His239Arg
ENST00000399423.8:c.716A>G ENSP00000382350.4:p.His239Arg
ENST00000558476.5:c.278A>G ENSP00000452724.1:p.His93Arg
ENST00000558566.1:c.*88A>G ENSP00000453025.1:n.*88A>G
ENST00000559019.1:c.*88A>G ENSP00000453675.1:n.*88A>G
ENST00000559549.1:n.442A>G
ENST00000559969.5:c.672A>G
ENST00000626689.2:c.*88A>G ENSP00000486681.1:n.*88A>G
NM_001099274.1:c.716A>G NP_001092744.1:p.His239Arg
NM_012461.2:c.716A>G NP_036593.2:p.His239Arg
XM_005267528.2:c.716A>G XP_005267585.1:p.His239Arg
XM_005267529.2:c.611A>G XP_005267586.1:p.His204Arg
NM_001099274.2:c.716A>G NP_001092744.1:p.His239Arg
NM_001363668.1:c.611A>G NP_001350597.1:p.His204Arg
NM_012461.3:c.716A>G NP_036593.2:p.His239Arg
XM_011536642.2:c.*96A>G XP_011534944.1:n.*96A>G
XM_017021216.2:c.74A>G XP_016876705.1:p.His25Arg
XM_017021217.1:c.74A>G XP_016876706.1:p.His25Arg
NM_001099274.3:c.716A>G MANE Select NP_001092744.1:p.His239Arg
NM_001363668.2:c.611A>G NP_001350597.1:p.His204Arg