Canonical Allele Identifier: CA485782171

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709647A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240441A>G , CM000676.2:g.24240441A>G	GRCh38
NC_000014.8:g.24709647A>G , CM000676.1:g.24709647A>G	GRCh37
NC_000014.7:g.23779487A>G	NCBI36
NG_016650.1:g.7234T>C
NG_054634.1:g.13025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1342T>C
ENST00000557921.3:c.931T>C	ENSP00000453157.3:p.Leu311=
ENST00000699682.1:n.1429T>C
ENST00000699683.1:n.1479T>C
ENST00000699684.1:c.*632T>C	ENSP00000514523.1:n.*632T>C
ENST00000699685.1:n.1243T>C
ENST00000699686.1:c.832T>C	ENSP00000514524.1:p.Leu278=
ENST00000699687.1:c.934T>C	ENSP00000514525.1:p.Leu312=
ENST00000699688.1:n.1239T>C
ENST00000699689.1:n.1595T>C
ENST00000699690.1:n.1792T>C
ENST00000699691.1:n.1936T>C
ENST00000699693.1:n.1456T>C
ENST00000699694.1:n.1698T>C
ENST00000699695.1:c.*411T>C	ENSP00000514526.1:n.*411T>C
ENST00000699696.1:n.1342T>C
ENST00000699697.1:c.1039T>C	ENSP00000514527.1:p.Leu347=
ENST00000699698.1:n.960T>C
ENST00000699699.1:n.1363T>C
ENST00000699700.1:n.1486T>C
ENST00000699701.1:c.*419T>C	ENSP00000514528.1:n.*419T>C
ENST00000267415.12:c.1039T>C MANE Select	ENSP00000267415.7:p.Leu347=
ENST00000646753.1:c.934T>C	ENSP00000494065.1:p.Leu312=
ENST00000267415.11:c.1039T>C	ENSP00000267415.7:p.Leu347=
ENST00000399423.8:c.1039T>C	ENSP00000382350.4:p.Leu347=
ENST00000557915.1:n.158T>C
ENST00000558566.1:c.*411T>C	ENSP00000453025.1:n.*411T>C
ENST00000559969.5:c.797T>C
ENST00000560019.5:c.34T>C	ENSP00000453113.1:p.Leu12=
ENST00000626689.2:c.*411T>C	ENSP00000486681.1:n.*411T>C
NM_001099274.1:c.1039T>C	NP_001092744.1:p.Leu347=
NM_012461.2:c.1039T>C	NP_036593.2:p.Leu347=
XM_005267528.2:c.1039T>C	XP_005267585.1:p.Leu347=
XM_005267529.2:c.934T>C	XP_005267586.1:p.Leu312=
NM_001099274.2:c.1039T>C	NP_001092744.1:p.Leu347=
NM_001363668.1:c.934T>C	NP_001350597.1:p.Leu312=
NM_012461.3:c.1039T>C	NP_036593.2:p.Leu347=
XM_011536642.2:c.*419T>C	XP_011534944.1:n.*419T>C
XM_017021216.2:c.397T>C	XP_016876705.1:p.Leu133=
XM_017021217.1:c.397T>C	XP_016876706.1:p.Leu133=
NM_001099274.3:c.1039T>C MANE Select	NP_001092744.1:p.Leu347=
NM_001363668.2:c.934T>C	NP_001350597.1:p.Leu312=