Canonical Allele Identifier: CA7130535

Gene: TINF2

Linked Data

• dbSNP Id: rs765587749
• ExAC: 14:24709684 G / A
• gnomAD v2: 14-24709684-G-A
• gnomAD v4: 14-24240478-G-A
• COSMIC: COSM238306 ; COSM238307
• MyVariant Identifiers: chr14:g.24709684G>A (hg19) ; chr14:g.24240478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240478G>A , CM000676.2:g.24240478G>A	GRCh38
NC_000014.8:g.24709684G>A , CM000676.1:g.24709684G>A	GRCh37
NC_000014.7:g.23779524G>A	NCBI36
NG_016650.1:g.7197C>T
NG_054634.1:g.13062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1305C>T
ENST00000557921.3:c.894C>T	ENSP00000453157.3:p.Thr298=
ENST00000699682.1:n.1392C>T
ENST00000699683.1:n.1442C>T
ENST00000699684.1:c.*595C>T	ENSP00000514523.1:n.*595C>T
ENST00000699685.1:n.1206C>T
ENST00000699686.1:c.795C>T	ENSP00000514524.1:p.Thr265=
ENST00000699687.1:c.897C>T	ENSP00000514525.1:p.Thr299=
ENST00000699688.1:n.1202C>T
ENST00000699689.1:n.1558C>T
ENST00000699690.1:n.1755C>T
ENST00000699691.1:n.1899C>T
ENST00000699693.1:n.1419C>T
ENST00000699694.1:n.1661C>T
ENST00000699695.1:c.*374C>T	ENSP00000514526.1:n.*374C>T
ENST00000699696.1:n.1305C>T
ENST00000699697.1:c.1002C>T	ENSP00000514527.1:p.Thr334=
ENST00000699698.1:n.923C>T
ENST00000699699.1:n.1326C>T
ENST00000699700.1:n.1449C>T
ENST00000699701.1:c.*382C>T	ENSP00000514528.1:n.*382C>T
ENST00000267415.12:c.1002C>T MANE Select	ENSP00000267415.7:p.Thr334=
ENST00000646753.1:c.897C>T	ENSP00000494065.1:p.Thr299=
ENST00000267415.11:c.1002C>T	ENSP00000267415.7:p.Thr334=
ENST00000399423.8:c.1002C>T	ENSP00000382350.4:p.Thr334=
ENST00000557915.1:n.121C>T
ENST00000558566.1:c.*374C>T	ENSP00000453025.1:n.*374C>T
ENST00000559969.5:c.760C>T
ENST00000626689.2:c.*374C>T	ENSP00000486681.1:n.*374C>T
NM_001099274.1:c.1002C>T	NP_001092744.1:p.Thr334=
NM_012461.2:c.1002C>T	NP_036593.2:p.Thr334=
XM_005267528.2:c.1002C>T	XP_005267585.1:p.Thr334=
XM_005267529.2:c.897C>T	XP_005267586.1:p.Thr299=
NM_001099274.2:c.1002C>T	NP_001092744.1:p.Thr334=
NM_001363668.1:c.897C>T	NP_001350597.1:p.Thr299=
NM_012461.3:c.1002C>T	NP_036593.2:p.Thr334=
XM_011536642.2:c.*382C>T	XP_011534944.1:n.*382C>T
XM_017021216.2:c.360C>T	XP_016876705.1:p.Thr120=
XM_017021217.1:c.360C>T	XP_016876706.1:p.Thr120=
NM_001099274.3:c.1002C>T MANE Select	NP_001092744.1:p.Thr334=
NM_001363668.2:c.897C>T	NP_001350597.1:p.Thr299=