Canonical Allele Identifier: CA485782213

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709666C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240460C>A , CM000676.2:g.24240460C>A	GRCh38
NC_000014.8:g.24709666C>A , CM000676.1:g.24709666C>A	GRCh37
NC_000014.7:g.23779506C>A	NCBI36
NG_016650.1:g.7215G>T
NG_054634.1:g.13044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1323G>T
ENST00000557921.3:c.912G>T	ENSP00000453157.3:p.Leu304=
ENST00000699682.1:n.1410G>T
ENST00000699683.1:n.1460G>T
ENST00000699684.1:c.*613G>T	ENSP00000514523.1:n.*613G>T
ENST00000699685.1:n.1224G>T
ENST00000699686.1:c.813G>T	ENSP00000514524.1:p.Leu271=
ENST00000699687.1:c.915G>T	ENSP00000514525.1:p.Leu305=
ENST00000699688.1:n.1220G>T
ENST00000699689.1:n.1576G>T
ENST00000699690.1:n.1773G>T
ENST00000699691.1:n.1917G>T
ENST00000699693.1:n.1437G>T
ENST00000699694.1:n.1679G>T
ENST00000699695.1:c.*392G>T	ENSP00000514526.1:n.*392G>T
ENST00000699696.1:n.1323G>T
ENST00000699697.1:c.1020G>T	ENSP00000514527.1:p.Leu340=
ENST00000699698.1:n.941G>T
ENST00000699699.1:n.1344G>T
ENST00000699700.1:n.1467G>T
ENST00000699701.1:c.*400G>T	ENSP00000514528.1:n.*400G>T
ENST00000267415.12:c.1020G>T MANE Select	ENSP00000267415.7:p.Leu340=
ENST00000646753.1:c.915G>T	ENSP00000494065.1:p.Leu305=
ENST00000267415.11:c.1020G>T	ENSP00000267415.7:p.Leu340=
ENST00000399423.8:c.1020G>T	ENSP00000382350.4:p.Leu340=
ENST00000557915.1:n.139G>T
ENST00000558566.1:c.*392G>T	ENSP00000453025.1:n.*392G>T
ENST00000559969.5:c.778G>T
ENST00000560019.5:c.15G>T	ENSP00000453113.1:p.Leu5=
ENST00000626689.2:c.*392G>T	ENSP00000486681.1:n.*392G>T
NM_001099274.1:c.1020G>T	NP_001092744.1:p.Leu340=
NM_012461.2:c.1020G>T	NP_036593.2:p.Leu340=
XM_005267528.2:c.1020G>T	XP_005267585.1:p.Leu340=
XM_005267529.2:c.915G>T	XP_005267586.1:p.Leu305=
NM_001099274.2:c.1020G>T	NP_001092744.1:p.Leu340=
NM_001363668.1:c.915G>T	NP_001350597.1:p.Leu305=
NM_012461.3:c.1020G>T	NP_036593.2:p.Leu340=
XM_011536642.2:c.*400G>T	XP_011534944.1:n.*400G>T
XM_017021216.2:c.378G>T	XP_016876705.1:p.Leu126=
XM_017021217.1:c.378G>T	XP_016876706.1:p.Leu126=
NM_001099274.3:c.1020G>T MANE Select	NP_001092744.1:p.Leu340=
NM_001363668.2:c.915G>T	NP_001350597.1:p.Leu305=