Canonical Allele Identifier: CA485782287

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709693T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240487T>G , CM000676.2:g.24240487T>G	GRCh38
NC_000014.8:g.24709693T>G , CM000676.1:g.24709693T>G	GRCh37
NC_000014.7:g.23779533T>G	NCBI36
NG_016650.1:g.7188A>C
NG_054634.1:g.13071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1296A>C
ENST00000557921.3:c.885A>C	ENSP00000453157.3:p.Pro295=
ENST00000699682.1:n.1383A>C
ENST00000699683.1:n.1433A>C
ENST00000699684.1:c.*586A>C	ENSP00000514523.1:n.*586A>C
ENST00000699685.1:n.1197A>C
ENST00000699686.1:c.786A>C	ENSP00000514524.1:p.Pro262=
ENST00000699687.1:c.888A>C	ENSP00000514525.1:p.Pro296=
ENST00000699688.1:n.1193A>C
ENST00000699689.1:n.1549A>C
ENST00000699690.1:n.1746A>C
ENST00000699691.1:n.1890A>C
ENST00000699693.1:n.1410A>C
ENST00000699694.1:n.1652A>C
ENST00000699695.1:c.*365A>C	ENSP00000514526.1:n.*365A>C
ENST00000699696.1:n.1296A>C
ENST00000699697.1:c.993A>C	ENSP00000514527.1:p.Pro331=
ENST00000699698.1:n.914A>C
ENST00000699699.1:n.1317A>C
ENST00000699700.1:n.1440A>C
ENST00000699701.1:c.*373A>C	ENSP00000514528.1:n.*373A>C
ENST00000267415.12:c.993A>C MANE Select	ENSP00000267415.7:p.Pro331=
ENST00000646753.1:c.888A>C	ENSP00000494065.1:p.Pro296=
ENST00000267415.11:c.993A>C	ENSP00000267415.7:p.Pro331=
ENST00000399423.8:c.993A>C	ENSP00000382350.4:p.Pro331=
ENST00000557915.1:n.112A>C
ENST00000558566.1:c.*365A>C	ENSP00000453025.1:n.*365A>C
ENST00000559019.1:c.*365A>C	ENSP00000453675.1:n.*365A>C
ENST00000559969.5:c.758-7A>C
ENST00000626689.2:c.*365A>C	ENSP00000486681.1:n.*365A>C
NM_001099274.1:c.993A>C	NP_001092744.1:p.Pro331=
NM_012461.2:c.993A>C	NP_036593.2:p.Pro331=
XM_005267528.2:c.993A>C	XP_005267585.1:p.Pro331=
XM_005267529.2:c.888A>C	XP_005267586.1:p.Pro296=
NM_001099274.2:c.993A>C	NP_001092744.1:p.Pro331=
NM_001363668.1:c.888A>C	NP_001350597.1:p.Pro296=
NM_012461.3:c.993A>C	NP_036593.2:p.Pro331=
XM_011536642.2:c.*373A>C	XP_011534944.1:n.*373A>C
XM_017021216.2:c.351A>C	XP_016876705.1:p.Pro117=
XM_017021217.1:c.351A>C	XP_016876706.1:p.Pro117=
NM_001099274.3:c.993A>C MANE Select	NP_001092744.1:p.Pro331=
NM_001363668.2:c.888A>C	NP_001350597.1:p.Pro296=