Canonical Allele Identifier: CA389224305
Gene: TINF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240528T>A , CM000676.2:g.24240528T>A GRCh38
NC_000014.8:g.24709734T>A , CM000676.1:g.24709734T>A GRCh37
NC_000014.7:g.23779574T>A NCBI36
NG_016650.1:g.7147A>T
NG_054634.1:g.13112T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1255A>T
ENST00000557921.3:c.844A>T ENSP00000453157.3:p.Met282Leu
ENST00000699682.1:n.1342A>T
ENST00000699683.1:n.1392A>T
ENST00000699684.1:c.*545A>T ENSP00000514523.1:n.*545A>T
ENST00000699685.1:n.1156A>T
ENST00000699686.1:c.745A>T ENSP00000514524.1:p.Met249Leu
ENST00000699687.1:c.847A>T ENSP00000514525.1:p.Met283Leu
ENST00000699688.1:n.1152A>T
ENST00000699689.1:n.1508A>T
ENST00000699690.1:n.1705A>T
ENST00000699691.1:n.1849A>T
ENST00000699693.1:n.1369A>T
ENST00000699694.1:n.1611A>T
ENST00000699695.1:c.*324A>T ENSP00000514526.1:n.*324A>T
ENST00000699696.1:n.1255A>T
ENST00000699697.1:c.952A>T ENSP00000514527.1:p.Met318Leu
ENST00000699698.1:n.873A>T
ENST00000699699.1:n.1276A>T
ENST00000699700.1:n.1399A>T
ENST00000699701.1:c.*332A>T ENSP00000514528.1:n.*332A>T
ENST00000267415.12:c.952A>T MANE Select ENSP00000267415.7:p.Met318Leu
ENST00000557921.2:c.844A>T ENSP00000453157.2:p.Met282Leu
ENST00000646753.1:c.847A>T ENSP00000494065.1:p.Met283Leu
ENST00000267415.11:c.952A>T ENSP00000267415.7:p.Met318Leu
ENST00000399423.8:c.952A>T ENSP00000382350.4:p.Met318Leu
ENST00000557915.1:n.71A>T
ENST00000558566.1:c.*324A>T ENSP00000453025.1:n.*324A>T
ENST00000559019.1:c.*324A>T ENSP00000453675.1:n.*324A>T
ENST00000559969.5:c.758-48A>T
ENST00000626689.2:c.*324A>T ENSP00000486681.1:n.*324A>T
NM_001099274.1:c.952A>T NP_001092744.1:p.Met318Leu
NM_012461.2:c.952A>T NP_036593.2:p.Met318Leu
XM_005267528.2:c.952A>T XP_005267585.1:p.Met318Leu
XM_005267529.2:c.847A>T XP_005267586.1:p.Met283Leu
NM_001099274.2:c.952A>T NP_001092744.1:p.Met318Leu
NM_001363668.1:c.847A>T NP_001350597.1:p.Met283Leu
NM_012461.3:c.952A>T NP_036593.2:p.Met318Leu
XM_011536642.2:c.*332A>T XP_011534944.1:n.*332A>T
XM_017021216.2:c.310A>T XP_016876705.1:p.Met104Leu
XM_017021217.1:c.310A>T XP_016876706.1:p.Met104Leu
NM_001099274.3:c.952A>T MANE Select NP_001092744.1:p.Met318Leu
NM_001363668.2:c.847A>T NP_001350597.1:p.Met283Leu