Canonical Allele Identifier: CA389224366

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709741G>T (hg19) ; chr14:g.24240535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240535G>T , CM000676.2:g.24240535G>T	GRCh38
NC_000014.8:g.24709741G>T , CM000676.1:g.24709741G>T	GRCh37
NC_000014.7:g.23779581G>T	NCBI36
NG_016650.1:g.7140C>A
NG_054634.1:g.13119G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1248C>A
ENST00000557921.3:c.837C>A	ENSP00000453157.3:p.Asp279Glu
ENST00000699682.1:n.1335C>A
ENST00000699683.1:n.1385C>A
ENST00000699684.1:c.*538C>A	ENSP00000514523.1:n.*538C>A
ENST00000699685.1:n.1149C>A
ENST00000699686.1:c.738C>A	ENSP00000514524.1:p.Asp246Glu
ENST00000699687.1:c.840C>A	ENSP00000514525.1:p.Asp280Glu
ENST00000699688.1:n.1145C>A
ENST00000699689.1:n.1501C>A
ENST00000699690.1:n.1698C>A
ENST00000699691.1:n.1842C>A
ENST00000699693.1:n.1362C>A
ENST00000699694.1:n.1604C>A
ENST00000699695.1:c.*317C>A	ENSP00000514526.1:n.*317C>A
ENST00000699696.1:n.1248C>A
ENST00000699697.1:c.945C>A	ENSP00000514527.1:p.Asp315Glu
ENST00000699698.1:n.866C>A
ENST00000699699.1:n.1269C>A
ENST00000699700.1:n.1392C>A
ENST00000699701.1:c.*325C>A	ENSP00000514528.1:n.*325C>A
ENST00000267415.12:c.945C>A MANE Select	ENSP00000267415.7:p.Asp315Glu
ENST00000557921.2:c.837C>A	ENSP00000453157.2:p.Asp279Glu
ENST00000646753.1:c.840C>A	ENSP00000494065.1:p.Asp280Glu
ENST00000267415.11:c.945C>A	ENSP00000267415.7:p.Asp315Glu
ENST00000399423.8:c.945C>A	ENSP00000382350.4:p.Asp315Glu
ENST00000557915.1:n.64C>A
ENST00000558566.1:c.*317C>A	ENSP00000453025.1:n.*317C>A
ENST00000559019.1:c.*317C>A	ENSP00000453675.1:n.*317C>A
ENST00000559969.5:c.758-55C>A
ENST00000626689.2:c.*317C>A	ENSP00000486681.1:n.*317C>A
NM_001099274.1:c.945C>A	NP_001092744.1:p.Asp315Glu
NM_012461.2:c.945C>A	NP_036593.2:p.Asp315Glu
XM_005267528.2:c.945C>A	XP_005267585.1:p.Asp315Glu
XM_005267529.2:c.840C>A	XP_005267586.1:p.Asp280Glu
NM_001099274.2:c.945C>A	NP_001092744.1:p.Asp315Glu
NM_001363668.1:c.840C>A	NP_001350597.1:p.Asp280Glu
NM_012461.3:c.945C>A	NP_036593.2:p.Asp315Glu
XM_011536642.2:c.*325C>A	XP_011534944.1:n.*325C>A
XM_017021216.2:c.303C>A	XP_016876705.1:p.Asp101Glu
XM_017021217.1:c.303C>A	XP_016876706.1:p.Asp101Glu
NM_001099274.3:c.945C>A MANE Select	NP_001092744.1:p.Asp315Glu
NM_001363668.2:c.840C>A	NP_001350597.1:p.Asp280Glu