Canonical Allele Identifier: CA389223756

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709682A>T (hg19) ; chr14:g.24240476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240476A>T , CM000676.2:g.24240476A>T	GRCh38
NC_000014.8:g.24709682A>T , CM000676.1:g.24709682A>T	GRCh37
NC_000014.7:g.23779522A>T	NCBI36
NG_016650.1:g.7199T>A
NG_054634.1:g.13060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1307T>A
ENST00000557921.3:c.896T>A	ENSP00000453157.3:p.Leu299Gln
ENST00000699682.1:n.1394T>A
ENST00000699683.1:n.1444T>A
ENST00000699684.1:c.*597T>A	ENSP00000514523.1:n.*597T>A
ENST00000699685.1:n.1208T>A
ENST00000699686.1:c.797T>A	ENSP00000514524.1:p.Leu266Gln
ENST00000699687.1:c.899T>A	ENSP00000514525.1:p.Leu300Gln
ENST00000699688.1:n.1204T>A
ENST00000699689.1:n.1560T>A
ENST00000699690.1:n.1757T>A
ENST00000699691.1:n.1901T>A
ENST00000699693.1:n.1421T>A
ENST00000699694.1:n.1663T>A
ENST00000699695.1:c.*376T>A	ENSP00000514526.1:n.*376T>A
ENST00000699696.1:n.1307T>A
ENST00000699697.1:c.1004T>A	ENSP00000514527.1:p.Leu335Gln
ENST00000699698.1:n.925T>A
ENST00000699699.1:n.1328T>A
ENST00000699700.1:n.1451T>A
ENST00000699701.1:c.*384T>A	ENSP00000514528.1:n.*384T>A
ENST00000267415.12:c.1004T>A MANE Select	ENSP00000267415.7:p.Leu335Gln
ENST00000646753.1:c.899T>A	ENSP00000494065.1:p.Leu300Gln
ENST00000267415.11:c.1004T>A	ENSP00000267415.7:p.Leu335Gln
ENST00000399423.8:c.1004T>A	ENSP00000382350.4:p.Leu335Gln
ENST00000557915.1:n.123T>A
ENST00000558566.1:c.*376T>A	ENSP00000453025.1:n.*376T>A
ENST00000559969.5:c.762T>A
ENST00000626689.2:c.*376T>A	ENSP00000486681.1:n.*376T>A
NM_001099274.1:c.1004T>A	NP_001092744.1:p.Leu335Gln
NM_012461.2:c.1004T>A	NP_036593.2:p.Leu335Gln
XM_005267528.2:c.1004T>A	XP_005267585.1:p.Leu335Gln
XM_005267529.2:c.899T>A	XP_005267586.1:p.Leu300Gln
NM_001099274.2:c.1004T>A	NP_001092744.1:p.Leu335Gln
NM_001363668.1:c.899T>A	NP_001350597.1:p.Leu300Gln
NM_012461.3:c.1004T>A	NP_036593.2:p.Leu335Gln
XM_011536642.2:c.*384T>A	XP_011534944.1:n.*384T>A
XM_017021216.2:c.362T>A	XP_016876705.1:p.Leu121Gln
XM_017021217.1:c.362T>A	XP_016876706.1:p.Leu121Gln
NM_001099274.3:c.1004T>A MANE Select	NP_001092744.1:p.Leu335Gln
NM_001363668.2:c.899T>A	NP_001350597.1:p.Leu300Gln