Canonical Allele Identifier: CA389223550

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2076826
• ClinVar RCV Id: RCV002979486
• MyVariant Identifiers: chr14:g.24709653C>G (hg19) ; chr14:g.24240447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240447C>G , CM000676.2:g.24240447C>G	GRCh38
NC_000014.8:g.24709653C>G , CM000676.1:g.24709653C>G	GRCh37
NC_000014.7:g.23779493C>G	NCBI36
NG_016650.1:g.7228G>C
NG_054634.1:g.13031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1336G>C
ENST00000557921.3:c.925G>C	ENSP00000453157.3:p.Val309Leu
ENST00000699682.1:n.1423G>C
ENST00000699683.1:n.1473G>C
ENST00000699684.1:c.*626G>C	ENSP00000514523.1:n.*626G>C
ENST00000699685.1:n.1237G>C
ENST00000699686.1:c.826G>C	ENSP00000514524.1:p.Val276Leu
ENST00000699687.1:c.928G>C	ENSP00000514525.1:p.Val310Leu
ENST00000699688.1:n.1233G>C
ENST00000699689.1:n.1589G>C
ENST00000699690.1:n.1786G>C
ENST00000699691.1:n.1930G>C
ENST00000699693.1:n.1450G>C
ENST00000699694.1:n.1692G>C
ENST00000699695.1:c.*405G>C	ENSP00000514526.1:n.*405G>C
ENST00000699696.1:n.1336G>C
ENST00000699697.1:c.1033G>C	ENSP00000514527.1:p.Val345Leu
ENST00000699698.1:n.954G>C
ENST00000699699.1:n.1357G>C
ENST00000699700.1:n.1480G>C
ENST00000699701.1:c.*413G>C	ENSP00000514528.1:n.*413G>C
ENST00000267415.12:c.1033G>C MANE Select	ENSP00000267415.7:p.Val345Leu
ENST00000646753.1:c.928G>C	ENSP00000494065.1:p.Val310Leu
ENST00000267415.11:c.1033G>C	ENSP00000267415.7:p.Val345Leu
ENST00000399423.8:c.1033G>C	ENSP00000382350.4:p.Val345Leu
ENST00000557915.1:n.152G>C
ENST00000558566.1:c.*405G>C	ENSP00000453025.1:n.*405G>C
ENST00000559969.5:c.791G>C
ENST00000560019.5:c.28G>C	ENSP00000453113.1:p.Val10Leu
ENST00000626689.2:c.*405G>C	ENSP00000486681.1:n.*405G>C
NM_001099274.1:c.1033G>C	NP_001092744.1:p.Val345Leu
NM_012461.2:c.1033G>C	NP_036593.2:p.Val345Leu
XM_005267528.2:c.1033G>C	XP_005267585.1:p.Val345Leu
XM_005267529.2:c.928G>C	XP_005267586.1:p.Val310Leu
NM_001099274.2:c.1033G>C	NP_001092744.1:p.Val345Leu
NM_001363668.1:c.928G>C	NP_001350597.1:p.Val310Leu
NM_012461.3:c.1033G>C	NP_036593.2:p.Val345Leu
XM_011536642.2:c.*413G>C	XP_011534944.1:n.*413G>C
XM_017021216.2:c.391G>C	XP_016876705.1:p.Val131Leu
XM_017021217.1:c.391G>C	XP_016876706.1:p.Val131Leu
NM_001099274.3:c.1033G>C MANE Select	NP_001092744.1:p.Val345Leu
NM_001363668.2:c.928G>C	NP_001350597.1:p.Val310Leu