Canonical Allele Identifier: CA7130547

Gene: TINF2

Linked Data

• dbSNP Id: rs775075453
• ExAC: 14:24709762 T / C
• gnomAD v2: 14-24709762-T-C
• gnomAD v4: 14-24240556-T-C
• MyVariant Identifiers: chr14:g.24709762T>C (hg19) ; chr14:g.24240556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240556T>C , CM000676.2:g.24240556T>C	GRCh38
NC_000014.8:g.24709762T>C , CM000676.1:g.24709762T>C	GRCh37
NC_000014.7:g.23779602T>C	NCBI36
NG_016650.1:g.7119A>G
NG_054634.1:g.13140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1227A>G
ENST00000557921.3:c.816A>G	ENSP00000453157.3:p.Glu272=
ENST00000699682.1:n.1314A>G
ENST00000699683.1:n.1364A>G
ENST00000699684.1:c.*517A>G	ENSP00000514523.1:n.*517A>G
ENST00000699685.1:n.1128A>G
ENST00000699686.1:c.717A>G	ENSP00000514524.1:p.Glu239=
ENST00000699687.1:c.819A>G	ENSP00000514525.1:p.Glu273=
ENST00000699688.1:n.1124A>G
ENST00000699689.1:n.1480A>G
ENST00000699690.1:n.1677A>G
ENST00000699691.1:n.1821A>G
ENST00000699693.1:n.1341A>G
ENST00000699694.1:n.1583A>G
ENST00000699695.1:c.*296A>G	ENSP00000514526.1:n.*296A>G
ENST00000699696.1:n.1227A>G
ENST00000699697.1:c.924A>G	ENSP00000514527.1:p.Glu308=
ENST00000699698.1:n.845A>G
ENST00000699699.1:n.1248A>G
ENST00000699700.1:n.1371A>G
ENST00000699701.1:c.*304A>G	ENSP00000514528.1:n.*304A>G
ENST00000267415.12:c.924A>G MANE Select	ENSP00000267415.7:p.Glu308=
ENST00000557921.2:c.816A>G	ENSP00000453157.2:p.Glu272=
ENST00000646753.1:c.819A>G	ENSP00000494065.1:p.Glu273=
ENST00000267415.11:c.924A>G	ENSP00000267415.7:p.Glu308=
ENST00000399423.8:c.924A>G	ENSP00000382350.4:p.Glu308=
ENST00000557915.1:n.43A>G
ENST00000558566.1:c.*296A>G	ENSP00000453025.1:n.*296A>G
ENST00000559019.1:c.*296A>G	ENSP00000453675.1:n.*296A>G
ENST00000559969.5:c.758-76A>G
ENST00000626689.2:c.*296A>G	ENSP00000486681.1:n.*296A>G
NM_001099274.1:c.924A>G	NP_001092744.1:p.Glu308=
NM_012461.2:c.924A>G	NP_036593.2:p.Glu308=
XM_005267528.2:c.924A>G	XP_005267585.1:p.Glu308=
XM_005267529.2:c.819A>G	XP_005267586.1:p.Glu273=
NM_001099274.2:c.924A>G	NP_001092744.1:p.Glu308=
NM_001363668.1:c.819A>G	NP_001350597.1:p.Glu273=
NM_012461.3:c.924A>G	NP_036593.2:p.Glu308=
XM_011536642.2:c.*304A>G	XP_011534944.1:n.*304A>G
XM_017021216.2:c.282A>G	XP_016876705.1:p.Glu94=
XM_017021217.1:c.282A>G	XP_016876706.1:p.Glu94=
NM_001099274.3:c.924A>G MANE Select	NP_001092744.1:p.Glu308=
NM_001363668.2:c.819A>G	NP_001350597.1:p.Glu273=