Canonical Allele Identifier: CA485782082

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1414712
• ClinVar RCV Id: RCV001920809
• dbSNP Id: rs2138996390
• COSMIC: COSM2032961
• MyVariant Identifiers: chr14:g.24709470T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240264T>A , CM000676.2:g.24240264T>A	GRCh38
NC_000014.8:g.24709470T>A , CM000676.1:g.24709470T>A	GRCh37
NC_000014.7:g.23779310T>A	NCBI36
NG_016650.1:g.7411A>T
NG_054634.1:g.12848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1519A>T
ENST00000557921.3:c.*151A>T	ENSP00000453157.3:n.*151A>T
ENST00000699682.1:n.1606A>T
ENST00000699683.1:n.1656A>T
ENST00000699684.1:c.*809A>T	ENSP00000514523.1:n.*809A>T
ENST00000699685.1:n.1420A>T
ENST00000699686.1:c.*151A>T	ENSP00000514524.1:n.*151A>T
ENST00000699687.1:c.*151A>T	ENSP00000514525.1:n.*151A>T
ENST00000699688.1:n.1416A>T
ENST00000699689.1:n.1772A>T
ENST00000699690.1:n.1969A>T
ENST00000699691.1:n.2113A>T
ENST00000699692.1:n.67A>T
ENST00000699693.1:n.1545A>T
ENST00000699694.1:n.1875A>T
ENST00000699695.1:c.*500A>T	ENSP00000514526.1:n.*500A>T
ENST00000699696.1:n.1519A>T
ENST00000699697.1:c.1128A>T	ENSP00000514527.1:p.Pro376=
ENST00000699698.1:n.1049A>T
ENST00000699699.1:n.1540A>T
ENST00000699700.1:n.1663A>T
ENST00000699701.1:c.*596A>T	ENSP00000514528.1:n.*596A>T
ENST00000267415.12:c.1128A>T MANE Select	ENSP00000267415.7:p.Pro376=
ENST00000646753.1:c.1023A>T	ENSP00000494065.1:p.Pro341=
ENST00000267415.11:c.1128A>T	ENSP00000267415.7:p.Pro376=
ENST00000399423.8:c.*151A>T	ENSP00000382350.4:n.*151A>T
ENST00000557915.1:n.335A>T
ENST00000558566.1:c.*588A>T	ENSP00000453025.1:n.*588A>T
ENST00000559969.5:c.974A>T
ENST00000560019.5:c.123A>T	ENSP00000453113.1:p.Pro41=
ENST00000626689.2:c.*500A>T	ENSP00000486681.1:n.*500A>T
NM_001099274.1:c.1128A>T	NP_001092744.1:p.Pro376=
NM_012461.2:c.*151A>T	NP_036593.2:n.*151A>T
XM_005267528.2:c.1128A>T	XP_005267585.1:p.Pro376=
XM_005267529.2:c.1023A>T	XP_005267586.1:p.Pro341=
NM_001099274.2:c.1128A>T	NP_001092744.1:p.Pro376=
NM_001363668.1:c.1023A>T	NP_001350597.1:p.Pro341=
NM_012461.3:c.*151A>T	NP_036593.2:n.*151A>T
XM_011536642.2:c.*596A>T	XP_011534944.1:n.*596A>T
XM_017021216.2:c.486A>T	XP_016876705.1:p.Pro162=
XM_017021217.1:c.486A>T	XP_016876706.1:p.Pro162=
NM_001099274.3:c.1128A>T MANE Select	NP_001092744.1:p.Pro376=
NM_001363668.2:c.1023A>T	NP_001350597.1:p.Pro341=