Canonical Allele Identifier: CA485782277

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709927T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240721T>A , CM000676.2:g.24240721T>A	GRCh38
NC_000014.8:g.24709927T>A , CM000676.1:g.24709927T>A	GRCh37
NC_000014.7:g.23779767T>A	NCBI36
NG_016650.1:g.6954A>T
NG_054634.1:g.13305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1062A>T
ENST00000557921.3:c.651A>T	ENSP00000453157.3:p.Leu217=
ENST00000699682.1:n.1149A>T
ENST00000699683.1:n.1199A>T
ENST00000699684.1:c.*352A>T	ENSP00000514523.1:n.*352A>T
ENST00000699685.1:n.963A>T
ENST00000699686.1:c.552A>T	ENSP00000514524.1:p.Leu184=
ENST00000699687.1:c.654A>T	ENSP00000514525.1:p.Leu218=
ENST00000699688.1:n.959A>T
ENST00000699689.1:n.1315A>T
ENST00000699690.1:n.1512A>T
ENST00000699691.1:n.1656A>T
ENST00000699693.1:n.1176A>T
ENST00000699694.1:n.1418A>T
ENST00000699695.1:c.*131A>T	ENSP00000514526.1:n.*131A>T
ENST00000699696.1:n.1062A>T
ENST00000699697.1:c.759A>T	ENSP00000514527.1:p.Leu253=
ENST00000699698.1:n.680A>T
ENST00000699699.1:n.1083A>T
ENST00000699700.1:n.1206A>T
ENST00000699701.1:c.*139A>T	ENSP00000514528.1:n.*139A>T
ENST00000267415.12:c.759A>T MANE Select	ENSP00000267415.7:p.Leu253=
ENST00000557921.2:c.651A>T	ENSP00000453157.2:p.Leu217=
ENST00000646753.1:c.654A>T	ENSP00000494065.1:p.Leu218=
ENST00000267415.11:c.759A>T	ENSP00000267415.7:p.Leu253=
ENST00000399423.8:c.759A>T	ENSP00000382350.4:p.Leu253=
ENST00000558476.5:c.321A>T	ENSP00000452724.1:p.Leu107=
ENST00000558566.1:c.*131A>T	ENSP00000453025.1:n.*131A>T
ENST00000559019.1:c.*131A>T	ENSP00000453675.1:n.*131A>T
ENST00000559549.1:n.485A>T
ENST00000559969.5:c.715A>T
ENST00000626689.2:c.*131A>T	ENSP00000486681.1:n.*131A>T
NM_001099274.1:c.759A>T	NP_001092744.1:p.Leu253=
NM_012461.2:c.759A>T	NP_036593.2:p.Leu253=
XM_005267528.2:c.759A>T	XP_005267585.1:p.Leu253=
XM_005267529.2:c.654A>T	XP_005267586.1:p.Leu218=
NM_001099274.2:c.759A>T	NP_001092744.1:p.Leu253=
NM_001363668.1:c.654A>T	NP_001350597.1:p.Leu218=
NM_012461.3:c.759A>T	NP_036593.2:p.Leu253=
XM_011536642.2:c.*139A>T	XP_011534944.1:n.*139A>T
XM_017021216.2:c.117A>T	XP_016876705.1:p.Leu39=
XM_017021217.1:c.117A>T	XP_016876706.1:p.Leu39=
NM_001099274.3:c.759A>T MANE Select	NP_001092744.1:p.Leu253=
NM_001363668.2:c.654A>T	NP_001350597.1:p.Leu218=