Canonical Allele Identifier: CA7130533

Gene: TINF2

Linked Data

• dbSNP Id: rs763653589
• ExAC: 14:24709681 C / T
• gnomAD v2: 14-24709681-C-T
• gnomAD v4: 14-24240475-C-T
• COSMIC: COSM4733810 ; COSM4733811
• MyVariant Identifiers: chr14:g.24709681C>T (hg19) ; chr14:g.24240475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240475C>T , CM000676.2:g.24240475C>T	GRCh38
NC_000014.8:g.24709681C>T , CM000676.1:g.24709681C>T	GRCh37
NC_000014.7:g.23779521C>T	NCBI36
NG_016650.1:g.7200G>A
NG_054634.1:g.13059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1308G>A
ENST00000557921.3:c.897G>A	ENSP00000453157.3:p.Leu299=
ENST00000699682.1:n.1395G>A
ENST00000699683.1:n.1445G>A
ENST00000699684.1:c.*598G>A	ENSP00000514523.1:n.*598G>A
ENST00000699685.1:n.1209G>A
ENST00000699686.1:c.798G>A	ENSP00000514524.1:p.Leu266=
ENST00000699687.1:c.900G>A	ENSP00000514525.1:p.Leu300=
ENST00000699688.1:n.1205G>A
ENST00000699689.1:n.1561G>A
ENST00000699690.1:n.1758G>A
ENST00000699691.1:n.1902G>A
ENST00000699693.1:n.1422G>A
ENST00000699694.1:n.1664G>A
ENST00000699695.1:c.*377G>A	ENSP00000514526.1:n.*377G>A
ENST00000699696.1:n.1308G>A
ENST00000699697.1:c.1005G>A	ENSP00000514527.1:p.Leu335=
ENST00000699698.1:n.926G>A
ENST00000699699.1:n.1329G>A
ENST00000699700.1:n.1452G>A
ENST00000699701.1:c.*385G>A	ENSP00000514528.1:n.*385G>A
ENST00000267415.12:c.1005G>A MANE Select	ENSP00000267415.7:p.Leu335=
ENST00000646753.1:c.900G>A	ENSP00000494065.1:p.Leu300=
ENST00000267415.11:c.1005G>A	ENSP00000267415.7:p.Leu335=
ENST00000399423.8:c.1005G>A	ENSP00000382350.4:p.Leu335=
ENST00000557915.1:n.124G>A
ENST00000558566.1:c.*377G>A	ENSP00000453025.1:n.*377G>A
ENST00000559969.5:c.763G>A
ENST00000626689.2:c.*377G>A	ENSP00000486681.1:n.*377G>A
NM_001099274.1:c.1005G>A	NP_001092744.1:p.Leu335=
NM_012461.2:c.1005G>A	NP_036593.2:p.Leu335=
XM_005267528.2:c.1005G>A	XP_005267585.1:p.Leu335=
XM_005267529.2:c.900G>A	XP_005267586.1:p.Leu300=
NM_001099274.2:c.1005G>A	NP_001092744.1:p.Leu335=
NM_001363668.1:c.900G>A	NP_001350597.1:p.Leu300=
NM_012461.3:c.1005G>A	NP_036593.2:p.Leu335=
XM_011536642.2:c.*385G>A	XP_011534944.1:n.*385G>A
XM_017021216.2:c.363G>A	XP_016876705.1:p.Leu121=
XM_017021217.1:c.363G>A	XP_016876706.1:p.Leu121=
NM_001099274.3:c.1005G>A MANE Select	NP_001092744.1:p.Leu335=
NM_001363668.2:c.900G>A	NP_001350597.1:p.Leu300=