Canonical Allele Identifier: CA7130498

Gene: TINF2

Linked Data

• ClinVar Variation Id: 312947
• ClinVar RCV Id: RCV000266723 ; RCV000320995 ; RCV000466023 ; RCV000504205 ; RCV001574043 ; RCV003910171
• dbSNP Id: rs184422577
• ExAC: 14:24709506 C / T
• gnomAD v2: 14-24709506-C-T
• gnomAD v3: 14-24240300-C-T
• gnomAD v4: 14-24240300-C-T
• MyVariant Identifiers: chr14:g.24709506C>T (hg19) ; chr14:g.24709506_24709508delinsTAG (hg19) ; chr14:g.24240300C>T (hg38) ; chr14:g.24240300_24240302delinsTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240300C>T , CM000676.2:g.24240300C>T	GRCh38
NC_000014.8:g.24709506C>T , CM000676.1:g.24709506C>T	GRCh37
NC_000014.7:g.23779346C>T	NCBI36
NG_016650.1:g.7375G>A
NG_054634.1:g.12884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1483G>A
ENST00000557921.3:c.*115G>A	ENSP00000453157.3:n.*115G>A
ENST00000699682.1:n.1570G>A
ENST00000699683.1:n.1620G>A
ENST00000699684.1:c.*773G>A	ENSP00000514523.1:n.*773G>A
ENST00000699685.1:n.1384G>A
ENST00000699686.1:c.*115G>A	ENSP00000514524.1:n.*115G>A
ENST00000699687.1:c.*115G>A	ENSP00000514525.1:n.*115G>A
ENST00000699688.1:n.1380G>A
ENST00000699689.1:n.1736G>A
ENST00000699690.1:n.1933G>A
ENST00000699691.1:n.2077G>A
ENST00000699692.1:n.31G>A
ENST00000699693.1:n.1509G>A
ENST00000699694.1:n.1839G>A
ENST00000699695.1:c.*464G>A	ENSP00000514526.1:n.*464G>A
ENST00000699696.1:n.1483G>A
ENST00000699697.1:c.1092G>A	ENSP00000514527.1:p.Leu364=
ENST00000699698.1:n.1013G>A
ENST00000699699.1:n.1504G>A
ENST00000699700.1:n.1627G>A
ENST00000699701.1:c.*560G>A	ENSP00000514528.1:n.*560G>A
ENST00000267415.12:c.1092G>A MANE Select	ENSP00000267415.7:p.Leu364=
ENST00000646753.1:c.987G>A	ENSP00000494065.1:p.Leu329=
ENST00000267415.11:c.1092G>A	ENSP00000267415.7:p.Leu364=
ENST00000399423.8:c.*115G>A	ENSP00000382350.4:n.*115G>A
ENST00000557915.1:n.299G>A
ENST00000558566.1:c.*552G>A	ENSP00000453025.1:n.*552G>A
ENST00000559969.5:c.938G>A
ENST00000560019.5:c.87G>A	ENSP00000453113.1:p.Leu29=
ENST00000626689.2:c.*464G>A	ENSP00000486681.1:n.*464G>A
NM_001099274.1:c.1092G>A	NP_001092744.1:p.Leu364=
NM_012461.2:c.*115G>A	NP_036593.2:n.*115G>A
XM_005267528.2:c.1092G>A	XP_005267585.1:p.Leu364=
XM_005267529.2:c.987G>A	XP_005267586.1:p.Leu329=
NM_001099274.2:c.1092G>A	NP_001092744.1:p.Leu364=
NM_001363668.1:c.987G>A	NP_001350597.1:p.Leu329=
NM_012461.3:c.*115G>A	NP_036593.2:n.*115G>A
XM_011536642.2:c.*560G>A	XP_011534944.1:n.*560G>A
XM_017021216.2:c.450G>A	XP_016876705.1:p.Leu150=
XM_017021217.1:c.450G>A	XP_016876706.1:p.Leu150=
NM_001099274.3:c.1092G>A MANE Select	NP_001092744.1:p.Leu364=
NM_001363668.2:c.987G>A	NP_001350597.1:p.Leu329=