Canonical Allele Identifier: CA389223879

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709692A>G (hg19) ; chr14:g.24240486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240486A>G , CM000676.2:g.24240486A>G	GRCh38
NC_000014.8:g.24709692A>G , CM000676.1:g.24709692A>G	GRCh37
NC_000014.7:g.23779532A>G	NCBI36
NG_016650.1:g.7189T>C
NG_054634.1:g.13070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1297T>C
ENST00000557921.3:c.886T>C	ENSP00000453157.3:p.Cys296Arg
ENST00000699682.1:n.1384T>C
ENST00000699683.1:n.1434T>C
ENST00000699684.1:c.*587T>C	ENSP00000514523.1:n.*587T>C
ENST00000699685.1:n.1198T>C
ENST00000699686.1:c.787T>C	ENSP00000514524.1:p.Cys263Arg
ENST00000699687.1:c.889T>C	ENSP00000514525.1:p.Cys297Arg
ENST00000699688.1:n.1194T>C
ENST00000699689.1:n.1550T>C
ENST00000699690.1:n.1747T>C
ENST00000699691.1:n.1891T>C
ENST00000699693.1:n.1411T>C
ENST00000699694.1:n.1653T>C
ENST00000699695.1:c.*366T>C	ENSP00000514526.1:n.*366T>C
ENST00000699696.1:n.1297T>C
ENST00000699697.1:c.994T>C	ENSP00000514527.1:p.Cys332Arg
ENST00000699698.1:n.915T>C
ENST00000699699.1:n.1318T>C
ENST00000699700.1:n.1441T>C
ENST00000699701.1:c.*374T>C	ENSP00000514528.1:n.*374T>C
ENST00000267415.12:c.994T>C MANE Select	ENSP00000267415.7:p.Cys332Arg
ENST00000646753.1:c.889T>C	ENSP00000494065.1:p.Cys297Arg
ENST00000267415.11:c.994T>C	ENSP00000267415.7:p.Cys332Arg
ENST00000399423.8:c.994T>C	ENSP00000382350.4:p.Cys332Arg
ENST00000557915.1:n.113T>C
ENST00000558566.1:c.*366T>C	ENSP00000453025.1:n.*366T>C
ENST00000559019.1:c.*366T>C	ENSP00000453675.1:n.*366T>C
ENST00000559969.5:c.758-6T>C
ENST00000626689.2:c.*366T>C	ENSP00000486681.1:n.*366T>C
NM_001099274.1:c.994T>C	NP_001092744.1:p.Cys332Arg
NM_012461.2:c.994T>C	NP_036593.2:p.Cys332Arg
XM_005267528.2:c.994T>C	XP_005267585.1:p.Cys332Arg
XM_005267529.2:c.889T>C	XP_005267586.1:p.Cys297Arg
NM_001099274.2:c.994T>C	NP_001092744.1:p.Cys332Arg
NM_001363668.1:c.889T>C	NP_001350597.1:p.Cys297Arg
NM_012461.3:c.994T>C	NP_036593.2:p.Cys332Arg
XM_011536642.2:c.*374T>C	XP_011534944.1:n.*374T>C
XM_017021216.2:c.352T>C	XP_016876705.1:p.Cys118Arg
XM_017021217.1:c.352T>C	XP_016876706.1:p.Cys118Arg
NM_001099274.3:c.994T>C MANE Select	NP_001092744.1:p.Cys332Arg
NM_001363668.2:c.889T>C	NP_001350597.1:p.Cys297Arg