Canonical Allele Identifier: CA389223107

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709532A>G (hg19) ; chr14:g.24240326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240326A>G , CM000676.2:g.24240326A>G	GRCh38
NC_000014.8:g.24709532A>G , CM000676.1:g.24709532A>G	GRCh37
NC_000014.7:g.23779372A>G	NCBI36
NG_016650.1:g.7349T>C
NG_054634.1:g.12910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1457T>C
ENST00000557921.3:c.*89T>C	ENSP00000453157.3:n.*89T>C
ENST00000699682.1:n.1544T>C
ENST00000699683.1:n.1594T>C
ENST00000699684.1:c.*747T>C	ENSP00000514523.1:n.*747T>C
ENST00000699685.1:n.1358T>C
ENST00000699686.1:c.*89T>C	ENSP00000514524.1:n.*89T>C
ENST00000699687.1:c.*89T>C	ENSP00000514525.1:n.*89T>C
ENST00000699688.1:n.1354T>C
ENST00000699689.1:n.1710T>C
ENST00000699690.1:n.1907T>C
ENST00000699691.1:n.2051T>C
ENST00000699692.1:n.5T>C
ENST00000699693.1:n.1483T>C
ENST00000699694.1:n.1813T>C
ENST00000699695.1:c.*438T>C	ENSP00000514526.1:n.*438T>C
ENST00000699696.1:n.1457T>C
ENST00000699697.1:c.1066T>C	ENSP00000514527.1:p.Cys356Arg
ENST00000699698.1:n.987T>C
ENST00000699699.1:n.1478T>C
ENST00000699700.1:n.1601T>C
ENST00000699701.1:c.*534T>C	ENSP00000514528.1:n.*534T>C
ENST00000267415.12:c.1066T>C MANE Select	ENSP00000267415.7:p.Cys356Arg
ENST00000646753.1:c.961T>C	ENSP00000494065.1:p.Cys321Arg
ENST00000267415.11:c.1066T>C	ENSP00000267415.7:p.Cys356Arg
ENST00000399423.8:c.*89T>C	ENSP00000382350.4:n.*89T>C
ENST00000557915.1:n.273T>C
ENST00000558566.1:c.*526T>C	ENSP00000453025.1:n.*526T>C
ENST00000559969.5:c.912T>C
ENST00000560019.5:c.61T>C	ENSP00000453113.1:p.Cys21Arg
ENST00000626689.2:c.*438T>C	ENSP00000486681.1:n.*438T>C
NM_001099274.1:c.1066T>C	NP_001092744.1:p.Cys356Arg
NM_012461.2:c.*89T>C	NP_036593.2:n.*89T>C
XM_005267528.2:c.1066T>C	XP_005267585.1:p.Cys356Arg
XM_005267529.2:c.961T>C	XP_005267586.1:p.Cys321Arg
NM_001099274.2:c.1066T>C	NP_001092744.1:p.Cys356Arg
NM_001363668.1:c.961T>C	NP_001350597.1:p.Cys321Arg
NM_012461.3:c.*89T>C	NP_036593.2:n.*89T>C
XM_011536642.2:c.*534T>C	XP_011534944.1:n.*534T>C
XM_017021216.2:c.424T>C	XP_016876705.1:p.Cys142Arg
XM_017021217.1:c.424T>C	XP_016876706.1:p.Cys142Arg
NM_001099274.3:c.1066T>C MANE Select	NP_001092744.1:p.Cys356Arg
NM_001363668.2:c.961T>C	NP_001350597.1:p.Cys321Arg