Canonical Allele Identifier: CA485782180

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2782682
• ClinVar RCV Id: RCV003646017
• MyVariant Identifiers: chr14:g.24709651A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240445A>G , CM000676.2:g.24240445A>G	GRCh38
NC_000014.8:g.24709651A>G , CM000676.1:g.24709651A>G	GRCh37
NC_000014.7:g.23779491A>G	NCBI36
NG_016650.1:g.7230T>C
NG_054634.1:g.13029A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1338T>C
ENST00000557921.3:c.927T>C	ENSP00000453157.3:p.Val309=
ENST00000699682.1:n.1425T>C
ENST00000699683.1:n.1475T>C
ENST00000699684.1:c.*628T>C	ENSP00000514523.1:n.*628T>C
ENST00000699685.1:n.1239T>C
ENST00000699686.1:c.828T>C	ENSP00000514524.1:p.Val276=
ENST00000699687.1:c.930T>C	ENSP00000514525.1:p.Val310=
ENST00000699688.1:n.1235T>C
ENST00000699689.1:n.1591T>C
ENST00000699690.1:n.1788T>C
ENST00000699691.1:n.1932T>C
ENST00000699693.1:n.1452T>C
ENST00000699694.1:n.1694T>C
ENST00000699695.1:c.*407T>C	ENSP00000514526.1:n.*407T>C
ENST00000699696.1:n.1338T>C
ENST00000699697.1:c.1035T>C	ENSP00000514527.1:p.Val345=
ENST00000699698.1:n.956T>C
ENST00000699699.1:n.1359T>C
ENST00000699700.1:n.1482T>C
ENST00000699701.1:c.*415T>C	ENSP00000514528.1:n.*415T>C
ENST00000267415.12:c.1035T>C MANE Select	ENSP00000267415.7:p.Val345=
ENST00000646753.1:c.930T>C	ENSP00000494065.1:p.Val310=
ENST00000267415.11:c.1035T>C	ENSP00000267415.7:p.Val345=
ENST00000399423.8:c.1035T>C	ENSP00000382350.4:p.Val345=
ENST00000557915.1:n.154T>C
ENST00000558566.1:c.*407T>C	ENSP00000453025.1:n.*407T>C
ENST00000559969.5:c.793T>C
ENST00000560019.5:c.30T>C	ENSP00000453113.1:p.Val10=
ENST00000626689.2:c.*407T>C	ENSP00000486681.1:n.*407T>C
NM_001099274.1:c.1035T>C	NP_001092744.1:p.Val345=
NM_012461.2:c.1035T>C	NP_036593.2:p.Val345=
XM_005267528.2:c.1035T>C	XP_005267585.1:p.Val345=
XM_005267529.2:c.930T>C	XP_005267586.1:p.Val310=
NM_001099274.2:c.1035T>C	NP_001092744.1:p.Val345=
NM_001363668.1:c.930T>C	NP_001350597.1:p.Val310=
NM_012461.3:c.1035T>C	NP_036593.2:p.Val345=
XM_011536642.2:c.*415T>C	XP_011534944.1:n.*415T>C
XM_017021216.2:c.393T>C	XP_016876705.1:p.Val131=
XM_017021217.1:c.393T>C	XP_016876706.1:p.Val131=
NM_001099274.3:c.1035T>C MANE Select	NP_001092744.1:p.Val345=
NM_001363668.2:c.930T>C	NP_001350597.1:p.Val310=