Canonical Allele Identifier: CA389224140

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709721G>A (hg19) ; chr14:g.24240515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240515G>A , CM000676.2:g.24240515G>A	GRCh38
NC_000014.8:g.24709721G>A , CM000676.1:g.24709721G>A	GRCh37
NC_000014.7:g.23779561G>A	NCBI36
NG_016650.1:g.7160C>T
NG_054634.1:g.13099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1268C>T
ENST00000557921.3:c.857C>T	ENSP00000453157.3:p.Ala286Val
ENST00000699682.1:n.1355C>T
ENST00000699683.1:n.1405C>T
ENST00000699684.1:c.*558C>T	ENSP00000514523.1:n.*558C>T
ENST00000699685.1:n.1169C>T
ENST00000699686.1:c.758C>T	ENSP00000514524.1:p.Ala253Val
ENST00000699687.1:c.860C>T	ENSP00000514525.1:p.Ala287Val
ENST00000699688.1:n.1165C>T
ENST00000699689.1:n.1521C>T
ENST00000699690.1:n.1718C>T
ENST00000699691.1:n.1862C>T
ENST00000699693.1:n.1382C>T
ENST00000699694.1:n.1624C>T
ENST00000699695.1:c.*337C>T	ENSP00000514526.1:n.*337C>T
ENST00000699696.1:n.1268C>T
ENST00000699697.1:c.965C>T	ENSP00000514527.1:p.Ala322Val
ENST00000699698.1:n.886C>T
ENST00000699699.1:n.1289C>T
ENST00000699700.1:n.1412C>T
ENST00000699701.1:c.*345C>T	ENSP00000514528.1:n.*345C>T
ENST00000267415.12:c.965C>T MANE Select	ENSP00000267415.7:p.Ala322Val
ENST00000557921.2:c.857C>T	ENSP00000453157.2:p.Ala286Val
ENST00000646753.1:c.860C>T	ENSP00000494065.1:p.Ala287Val
ENST00000267415.11:c.965C>T	ENSP00000267415.7:p.Ala322Val
ENST00000399423.8:c.965C>T	ENSP00000382350.4:p.Ala322Val
ENST00000557915.1:n.84C>T
ENST00000558566.1:c.*337C>T	ENSP00000453025.1:n.*337C>T
ENST00000559019.1:c.*337C>T	ENSP00000453675.1:n.*337C>T
ENST00000559969.5:c.758-35C>T
ENST00000626689.2:c.*337C>T	ENSP00000486681.1:n.*337C>T
NM_001099274.1:c.965C>T	NP_001092744.1:p.Ala322Val
NM_012461.2:c.965C>T	NP_036593.2:p.Ala322Val
XM_005267528.2:c.965C>T	XP_005267585.1:p.Ala322Val
XM_005267529.2:c.860C>T	XP_005267586.1:p.Ala287Val
NM_001099274.2:c.965C>T	NP_001092744.1:p.Ala322Val
NM_001363668.1:c.860C>T	NP_001350597.1:p.Ala287Val
NM_012461.3:c.965C>T	NP_036593.2:p.Ala322Val
XM_011536642.2:c.*345C>T	XP_011534944.1:n.*345C>T
XM_017021216.2:c.323C>T	XP_016876705.1:p.Ala108Val
XM_017021217.1:c.323C>T	XP_016876706.1:p.Ala108Val
NM_001099274.3:c.965C>T MANE Select	NP_001092744.1:p.Ala322Val
NM_001363668.2:c.860C>T	NP_001350597.1:p.Ala287Val