Canonical Allele Identifier: CA389226640

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709929G>T (hg19) ; chr14:g.24240723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240723G>T , CM000676.2:g.24240723G>T	GRCh38
NC_000014.8:g.24709929G>T , CM000676.1:g.24709929G>T	GRCh37
NC_000014.7:g.23779769G>T	NCBI36
NG_016650.1:g.6952C>A
NG_054634.1:g.13307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1060C>A
ENST00000557921.3:c.649C>A	ENSP00000453157.3:p.Leu217Ile
ENST00000699682.1:n.1147C>A
ENST00000699683.1:n.1197C>A
ENST00000699684.1:c.*350C>A	ENSP00000514523.1:n.*350C>A
ENST00000699685.1:n.961C>A
ENST00000699686.1:c.550C>A	ENSP00000514524.1:p.Leu184Ile
ENST00000699687.1:c.652C>A	ENSP00000514525.1:p.Leu218Ile
ENST00000699688.1:n.957C>A
ENST00000699689.1:n.1313C>A
ENST00000699690.1:n.1510C>A
ENST00000699691.1:n.1654C>A
ENST00000699693.1:n.1174C>A
ENST00000699694.1:n.1416C>A
ENST00000699695.1:c.*129C>A	ENSP00000514526.1:n.*129C>A
ENST00000699696.1:n.1060C>A
ENST00000699697.1:c.757C>A	ENSP00000514527.1:p.Leu253Ile
ENST00000699698.1:n.678C>A
ENST00000699699.1:n.1081C>A
ENST00000699700.1:n.1204C>A
ENST00000699701.1:c.*137C>A	ENSP00000514528.1:n.*137C>A
ENST00000267415.12:c.757C>A MANE Select	ENSP00000267415.7:p.Leu253Ile
ENST00000557921.2:c.649C>A	ENSP00000453157.2:p.Leu217Ile
ENST00000646753.1:c.652C>A	ENSP00000494065.1:p.Leu218Ile
ENST00000267415.11:c.757C>A	ENSP00000267415.7:p.Leu253Ile
ENST00000399423.8:c.757C>A	ENSP00000382350.4:p.Leu253Ile
ENST00000558476.5:c.319C>A	ENSP00000452724.1:p.Leu107Ile
ENST00000558566.1:c.*129C>A	ENSP00000453025.1:n.*129C>A
ENST00000559019.1:c.*129C>A	ENSP00000453675.1:n.*129C>A
ENST00000559549.1:n.483C>A
ENST00000559969.5:c.713C>A
ENST00000626689.2:c.*129C>A	ENSP00000486681.1:n.*129C>A
NM_001099274.1:c.757C>A	NP_001092744.1:p.Leu253Ile
NM_012461.2:c.757C>A	NP_036593.2:p.Leu253Ile
XM_005267528.2:c.757C>A	XP_005267585.1:p.Leu253Ile
XM_005267529.2:c.652C>A	XP_005267586.1:p.Leu218Ile
NM_001099274.2:c.757C>A	NP_001092744.1:p.Leu253Ile
NM_001363668.1:c.652C>A	NP_001350597.1:p.Leu218Ile
NM_012461.3:c.757C>A	NP_036593.2:p.Leu253Ile
XM_011536642.2:c.*137C>A	XP_011534944.1:n.*137C>A
XM_017021216.2:c.115C>A	XP_016876705.1:p.Leu39Ile
XM_017021217.1:c.115C>A	XP_016876706.1:p.Leu39Ile
NM_001099274.3:c.757C>A MANE Select	NP_001092744.1:p.Leu253Ile
NM_001363668.2:c.652C>A	NP_001350597.1:p.Leu218Ile