Canonical Allele Identifier: CA389223078

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709529A>C (hg19) ; chr14:g.24240323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240323A>C , CM000676.2:g.24240323A>C	GRCh38
NC_000014.8:g.24709529A>C , CM000676.1:g.24709529A>C	GRCh37
NC_000014.7:g.23779369A>C	NCBI36
NG_016650.1:g.7352T>G
NG_054634.1:g.12907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1460T>G
ENST00000557921.3:c.*92T>G	ENSP00000453157.3:n.*92T>G
ENST00000699682.1:n.1547T>G
ENST00000699683.1:n.1597T>G
ENST00000699684.1:c.*750T>G	ENSP00000514523.1:n.*750T>G
ENST00000699685.1:n.1361T>G
ENST00000699686.1:c.*92T>G	ENSP00000514524.1:n.*92T>G
ENST00000699687.1:c.*92T>G	ENSP00000514525.1:n.*92T>G
ENST00000699688.1:n.1357T>G
ENST00000699689.1:n.1713T>G
ENST00000699690.1:n.1910T>G
ENST00000699691.1:n.2054T>G
ENST00000699692.1:n.8T>G
ENST00000699693.1:n.1486T>G
ENST00000699694.1:n.1816T>G
ENST00000699695.1:c.*441T>G	ENSP00000514526.1:n.*441T>G
ENST00000699696.1:n.1460T>G
ENST00000699697.1:c.1069T>G	ENSP00000514527.1:p.Leu357Val
ENST00000699698.1:n.990T>G
ENST00000699699.1:n.1481T>G
ENST00000699700.1:n.1604T>G
ENST00000699701.1:c.*537T>G	ENSP00000514528.1:n.*537T>G
ENST00000267415.12:c.1069T>G MANE Select	ENSP00000267415.7:p.Leu357Val
ENST00000646753.1:c.964T>G	ENSP00000494065.1:p.Leu322Val
ENST00000267415.11:c.1069T>G	ENSP00000267415.7:p.Leu357Val
ENST00000399423.8:c.*92T>G	ENSP00000382350.4:n.*92T>G
ENST00000557915.1:n.276T>G
ENST00000558566.1:c.*529T>G	ENSP00000453025.1:n.*529T>G
ENST00000559969.5:c.915T>G
ENST00000560019.5:c.64T>G	ENSP00000453113.1:p.Leu22Val
ENST00000626689.2:c.*441T>G	ENSP00000486681.1:n.*441T>G
NM_001099274.1:c.1069T>G	NP_001092744.1:p.Leu357Val
NM_012461.2:c.*92T>G	NP_036593.2:n.*92T>G
XM_005267528.2:c.1069T>G	XP_005267585.1:p.Leu357Val
XM_005267529.2:c.964T>G	XP_005267586.1:p.Leu322Val
NM_001099274.2:c.1069T>G	NP_001092744.1:p.Leu357Val
NM_001363668.1:c.964T>G	NP_001350597.1:p.Leu322Val
NM_012461.3:c.*92T>G	NP_036593.2:n.*92T>G
XM_011536642.2:c.*537T>G	XP_011534944.1:n.*537T>G
XM_017021216.2:c.427T>G	XP_016876705.1:p.Leu143Val
XM_017021217.1:c.427T>G	XP_016876706.1:p.Leu143Val
NM_001099274.3:c.1069T>G MANE Select	NP_001092744.1:p.Leu357Val
NM_001363668.2:c.964T>G	NP_001350597.1:p.Leu322Val