Canonical Allele Identifier: CA7130472

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240145C>T , CM000676.2:g.24240145C>T	GRCh38
NC_000014.8:g.24709351C>T , CM000676.1:g.24709351C>T	GRCh37
NC_000014.7:g.23779191C>T	NCBI36
NG_016650.1:g.7530G>A
NG_054634.1:g.12729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1531G>A
ENST00000557921.3:c.*270G>A	ENSP00000453157.3:n.*270G>A
ENST00000699682.1:n.1725G>A
ENST00000699683.1:n.1775G>A
ENST00000699684.1:c.*928G>A	ENSP00000514523.1:n.*928G>A
ENST00000699685.1:n.1539G>A
ENST00000699686.1:c.*270G>A	ENSP00000514524.1:n.*270G>A
ENST00000699687.1:c.*270G>A	ENSP00000514525.1:n.*270G>A
ENST00000699688.1:n.1535G>A
ENST00000699689.1:n.1891G>A
ENST00000699690.1:n.2088G>A
ENST00000699691.1:n.2232G>A
ENST00000699692.1:n.107G>A
ENST00000699693.1:n.1557G>A
ENST00000699694.1:n.1994G>A
ENST00000699695.1:c.*512G>A	ENSP00000514526.1:n.*512G>A
ENST00000699696.1:n.1531G>A
ENST00000699697.1:c.*110G>A	ENSP00000514527.1:n.*110G>A
ENST00000699698.1:n.1168G>A
ENST00000699699.1:n.1659G>A
ENST00000699700.1:n.1782G>A
ENST00000699701.1:c.*715G>A	ENSP00000514528.1:n.*715G>A
ENST00000267415.12:c.1140G>A MANE Select	ENSP00000267415.7:p.Pro380=
ENST00000646753.1:c.1035G>A	ENSP00000494065.1:p.Pro345=
ENST00000267415.11:c.1140G>A	ENSP00000267415.7:p.Pro380=
ENST00000399423.8:c.*270G>A	ENSP00000382350.4:n.*270G>A
ENST00000557915.1:n.347G>A
ENST00000558566.1:c.*707G>A	ENSP00000453025.1:n.*707G>A
ENST00000558703.1:n.98G>A
ENST00000559969.5:c.1093G>A
ENST00000560019.5:c.135G>A	ENSP00000453113.1:p.Pro45=
ENST00000626689.2:c.*512G>A	ENSP00000486681.1:n.*512G>A
NM_001099274.1:c.1140G>A	NP_001092744.1:p.Pro380=
NM_012461.2:c.*270G>A	NP_036593.2:n.*270G>A
XM_005267528.2:c.1140G>A	XP_005267585.1:p.Pro380=
XM_005267529.2:c.1035G>A	XP_005267586.1:p.Pro345=
NM_001099274.2:c.1140G>A	NP_001092744.1:p.Pro380=
NM_001363668.1:c.1035G>A	NP_001350597.1:p.Pro345=
NM_012461.3:c.*270G>A	NP_036593.2:n.*270G>A
XM_011536642.2:c.*715G>A	XP_011534944.1:n.*715G>A
XM_017021216.2:c.498G>A	XP_016876705.1:p.Pro166=
XM_017021217.1:c.498G>A	XP_016876706.1:p.Pro166=
NM_001099274.3:c.1140G>A MANE Select	NP_001092744.1:p.Pro380=
NM_001363668.2:c.1035G>A	NP_001350597.1:p.Pro345=