Canonical Allele Identifier: CA389225240

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240603-G-A
• MyVariant Identifiers: chr14:g.24709809G>A (hg19) ; chr14:g.24240603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240603G>A , CM000676.2:g.24240603G>A	GRCh38
NC_000014.8:g.24709809G>A , CM000676.1:g.24709809G>A	GRCh37
NC_000014.7:g.23779649G>A	NCBI36
NG_016650.1:g.7072C>T
NG_054634.1:g.13187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1180C>T
ENST00000557921.3:c.769C>T	ENSP00000453157.3:p.Leu257Phe
ENST00000699682.1:n.1267C>T
ENST00000699683.1:n.1317C>T
ENST00000699684.1:c.*470C>T	ENSP00000514523.1:n.*470C>T
ENST00000699685.1:n.1081C>T
ENST00000699686.1:c.670C>T	ENSP00000514524.1:p.Leu224Phe
ENST00000699687.1:c.772C>T	ENSP00000514525.1:p.Leu258Phe
ENST00000699688.1:n.1077C>T
ENST00000699689.1:n.1433C>T
ENST00000699690.1:n.1630C>T
ENST00000699691.1:n.1774C>T
ENST00000699693.1:n.1294C>T
ENST00000699694.1:n.1536C>T
ENST00000699695.1:c.*249C>T	ENSP00000514526.1:n.*249C>T
ENST00000699696.1:n.1180C>T
ENST00000699697.1:c.877C>T	ENSP00000514527.1:p.Leu293Phe
ENST00000699698.1:n.798C>T
ENST00000699699.1:n.1201C>T
ENST00000699700.1:n.1324C>T
ENST00000699701.1:c.*257C>T	ENSP00000514528.1:n.*257C>T
ENST00000267415.12:c.877C>T MANE Select	ENSP00000267415.7:p.Leu293Phe
ENST00000557921.2:c.769C>T	ENSP00000453157.2:p.Leu257Phe
ENST00000646753.1:c.772C>T	ENSP00000494065.1:p.Leu258Phe
ENST00000267415.11:c.877C>T	ENSP00000267415.7:p.Leu293Phe
ENST00000399423.8:c.877C>T	ENSP00000382350.4:p.Leu293Phe
ENST00000558476.5:c.439C>T
ENST00000558566.1:c.*249C>T	ENSP00000453025.1:n.*249C>T
ENST00000559019.1:c.*249C>T	ENSP00000453675.1:n.*249C>T
ENST00000559549.1:n.603C>T
ENST00000559969.5:c.757+76C>T
ENST00000626689.2:c.*249C>T	ENSP00000486681.1:n.*249C>T
NM_001099274.1:c.877C>T	NP_001092744.1:p.Leu293Phe
NM_012461.2:c.877C>T	NP_036593.2:p.Leu293Phe
XM_005267528.2:c.877C>T	XP_005267585.1:p.Leu293Phe
XM_005267529.2:c.772C>T	XP_005267586.1:p.Leu258Phe
NM_001099274.2:c.877C>T	NP_001092744.1:p.Leu293Phe
NM_001363668.1:c.772C>T	NP_001350597.1:p.Leu258Phe
NM_012461.3:c.877C>T	NP_036593.2:p.Leu293Phe
XM_011536642.2:c.*257C>T	XP_011534944.1:n.*257C>T
XM_017021216.2:c.235C>T	XP_016876705.1:p.Leu79Phe
XM_017021217.1:c.235C>T	XP_016876706.1:p.Leu79Phe
NM_001099274.3:c.877C>T MANE Select	NP_001092744.1:p.Leu293Phe
NM_001363668.2:c.772C>T	NP_001350597.1:p.Leu258Phe