Canonical Allele Identifier: CA7130550

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1336939
• ClinVar RCV Id: RCV001819425 ; RCV002077295
• dbSNP Id: rs776136324
• ExAC: 14:24709774 C / T
• gnomAD v2: 14-24709774-C-T
• gnomAD v4: 14-24240568-C-T
• MyVariant Identifiers: chr14:g.24709774C>T (hg19) ; chr14:g.24240568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240568C>T , CM000676.2:g.24240568C>T	GRCh38
NC_000014.8:g.24709774C>T , CM000676.1:g.24709774C>T	GRCh37
NC_000014.7:g.23779614C>T	NCBI36
NG_016650.1:g.7107G>A
NG_054634.1:g.13152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1215G>A
ENST00000557921.3:c.804G>A	ENSP00000453157.3:p.Glu268=
ENST00000699682.1:n.1302G>A
ENST00000699683.1:n.1352G>A
ENST00000699684.1:c.*505G>A	ENSP00000514523.1:n.*505G>A
ENST00000699685.1:n.1116G>A
ENST00000699686.1:c.705G>A	ENSP00000514524.1:p.Glu235=
ENST00000699687.1:c.807G>A	ENSP00000514525.1:p.Glu269=
ENST00000699688.1:n.1112G>A
ENST00000699689.1:n.1468G>A
ENST00000699690.1:n.1665G>A
ENST00000699691.1:n.1809G>A
ENST00000699693.1:n.1329G>A
ENST00000699694.1:n.1571G>A
ENST00000699695.1:c.*284G>A	ENSP00000514526.1:n.*284G>A
ENST00000699696.1:n.1215G>A
ENST00000699697.1:c.912G>A	ENSP00000514527.1:p.Glu304=
ENST00000699698.1:n.833G>A
ENST00000699699.1:n.1236G>A
ENST00000699700.1:n.1359G>A
ENST00000699701.1:c.*292G>A	ENSP00000514528.1:n.*292G>A
ENST00000267415.12:c.912G>A MANE Select	ENSP00000267415.7:p.Glu304=
ENST00000557921.2:c.804G>A	ENSP00000453157.2:p.Glu268=
ENST00000646753.1:c.807G>A	ENSP00000494065.1:p.Glu269=
ENST00000267415.11:c.912G>A	ENSP00000267415.7:p.Glu304=
ENST00000399423.8:c.912G>A	ENSP00000382350.4:p.Glu304=
ENST00000557915.1:n.31G>A
ENST00000558566.1:c.*284G>A	ENSP00000453025.1:n.*284G>A
ENST00000559019.1:c.*284G>A	ENSP00000453675.1:n.*284G>A
ENST00000559969.5:c.758-88G>A
ENST00000626689.2:c.*284G>A	ENSP00000486681.1:n.*284G>A
NM_001099274.1:c.912G>A	NP_001092744.1:p.Glu304=
NM_012461.2:c.912G>A	NP_036593.2:p.Glu304=
XM_005267528.2:c.912G>A	XP_005267585.1:p.Glu304=
XM_005267529.2:c.807G>A	XP_005267586.1:p.Glu269=
NM_001099274.2:c.912G>A	NP_001092744.1:p.Glu304=
NM_001363668.1:c.807G>A	NP_001350597.1:p.Glu269=
NM_012461.3:c.912G>A	NP_036593.2:p.Glu304=
XM_011536642.2:c.*292G>A	XP_011534944.1:n.*292G>A
XM_017021216.2:c.270G>A	XP_016876705.1:p.Glu90=
XM_017021217.1:c.270G>A	XP_016876706.1:p.Glu90=
NM_001099274.3:c.912G>A MANE Select	NP_001092744.1:p.Glu304=
NM_001363668.2:c.807G>A	NP_001350597.1:p.Glu269=