Canonical Allele Identifier: CA485782023

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709496A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240290A>G , CM000676.2:g.24240290A>G	GRCh38
NC_000014.8:g.24709496A>G , CM000676.1:g.24709496A>G	GRCh37
NC_000014.7:g.23779336A>G	NCBI36
NG_016650.1:g.7385T>C
NG_054634.1:g.12874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1493T>C
ENST00000557921.3:c.*125T>C	ENSP00000453157.3:n.*125T>C
ENST00000699682.1:n.1580T>C
ENST00000699683.1:n.1630T>C
ENST00000699684.1:c.*783T>C	ENSP00000514523.1:n.*783T>C
ENST00000699685.1:n.1394T>C
ENST00000699686.1:c.*125T>C	ENSP00000514524.1:n.*125T>C
ENST00000699687.1:c.*125T>C	ENSP00000514525.1:n.*125T>C
ENST00000699688.1:n.1390T>C
ENST00000699689.1:n.1746T>C
ENST00000699690.1:n.1943T>C
ENST00000699691.1:n.2087T>C
ENST00000699692.1:n.41T>C
ENST00000699693.1:n.1519T>C
ENST00000699694.1:n.1849T>C
ENST00000699695.1:c.*474T>C	ENSP00000514526.1:n.*474T>C
ENST00000699696.1:n.1493T>C
ENST00000699697.1:c.1102T>C	ENSP00000514527.1:p.Leu368=
ENST00000699698.1:n.1023T>C
ENST00000699699.1:n.1514T>C
ENST00000699700.1:n.1637T>C
ENST00000699701.1:c.*570T>C	ENSP00000514528.1:n.*570T>C
ENST00000267415.12:c.1102T>C MANE Select	ENSP00000267415.7:p.Leu368=
ENST00000646753.1:c.997T>C	ENSP00000494065.1:p.Leu333=
ENST00000267415.11:c.1102T>C	ENSP00000267415.7:p.Leu368=
ENST00000399423.8:c.*125T>C	ENSP00000382350.4:n.*125T>C
ENST00000557915.1:n.309T>C
ENST00000558566.1:c.*562T>C	ENSP00000453025.1:n.*562T>C
ENST00000559969.5:c.948T>C
ENST00000560019.5:c.97T>C	ENSP00000453113.1:p.Leu33=
ENST00000626689.2:c.*474T>C	ENSP00000486681.1:n.*474T>C
NM_001099274.1:c.1102T>C	NP_001092744.1:p.Leu368=
NM_012461.2:c.*125T>C	NP_036593.2:n.*125T>C
XM_005267528.2:c.1102T>C	XP_005267585.1:p.Leu368=
XM_005267529.2:c.997T>C	XP_005267586.1:p.Leu333=
NM_001099274.2:c.1102T>C	NP_001092744.1:p.Leu368=
NM_001363668.1:c.997T>C	NP_001350597.1:p.Leu333=
NM_012461.3:c.*125T>C	NP_036593.2:n.*125T>C
XM_011536642.2:c.*570T>C	XP_011534944.1:n.*570T>C
XM_017021216.2:c.460T>C	XP_016876705.1:p.Leu154=
XM_017021217.1:c.460T>C	XP_016876706.1:p.Leu154=
NM_001099274.3:c.1102T>C MANE Select	NP_001092744.1:p.Leu368=
NM_001363668.2:c.997T>C	NP_001350597.1:p.Leu333=