Canonical Allele Identifier: CA7130563

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240709G>A , CM000676.2:g.24240709G>A	GRCh38
NC_000014.8:g.24709915G>A , CM000676.1:g.24709915G>A	GRCh37
NC_000014.7:g.23779755G>A	NCBI36
NG_016650.1:g.6966C>T
NG_054634.1:g.13293G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.771C>T MANE Select	NP_001092744.1:p.His257=
ENST00000267415.12:c.771C>T MANE Select	ENSP00000267415.7:p.His257=
NM_001099274.1:c.771C>T	NP_001092744.1:p.His257=
NM_001099274.2:c.771C>T	NP_001092744.1:p.His257=
NM_001363668.1:c.666C>T	NP_001350597.1:p.His222=
NM_001363668.2:c.666C>T	NP_001350597.1:p.His222=
NM_012461.2:c.771C>T	NP_036593.2:p.His257=
NM_012461.3:c.771C>T	NP_036593.2:p.His257=
ENST00000267415.11:c.771C>T	ENSP00000267415.7:p.His257=
ENST00000399423.8:c.771C>T	ENSP00000382350.4:p.His257=
ENST00000557915.2:n.1074C>T
ENST00000557921.2:c.663C>T	ENSP00000453157.2:p.His221=
ENST00000557921.3:c.663C>T	ENSP00000453157.3:p.His221=
ENST00000558476.5:c.333C>T	ENSP00000452724.1:p.His111=
ENST00000558566.1:c.*143C>T	ENSP00000453025.1:n.*143C>T
ENST00000559019.1:c.*143C>T	ENSP00000453675.1:n.*143C>T
ENST00000559549.1:n.497C>T
ENST00000559969.5:c.727C>T
ENST00000626689.2:c.*143C>T	ENSP00000486681.1:n.*143C>T
ENST00000646753.1:c.666C>T	ENSP00000494065.1:p.His222=
ENST00000699682.1:n.1161C>T
ENST00000699683.1:n.1211C>T
ENST00000699684.1:c.*364C>T	ENSP00000514523.1:n.*364C>T
ENST00000699685.1:n.975C>T
ENST00000699686.1:c.564C>T	ENSP00000514524.1:p.His188=
ENST00000699687.1:c.666C>T	ENSP00000514525.1:p.His222=
ENST00000699688.1:n.971C>T
ENST00000699689.1:n.1327C>T
ENST00000699690.1:n.1524C>T
ENST00000699691.1:n.1668C>T
ENST00000699693.1:n.1188C>T
ENST00000699694.1:n.1430C>T
ENST00000699695.1:c.*143C>T	ENSP00000514526.1:n.*143C>T
ENST00000699696.1:n.1074C>T
ENST00000699697.1:c.771C>T	ENSP00000514527.1:p.His257=
ENST00000699698.1:n.692C>T
ENST00000699699.1:n.1095C>T
ENST00000699700.1:n.1218C>T
ENST00000699701.1:c.*151C>T	ENSP00000514528.1:n.*151C>T
XM_005267528.2:c.771C>T	XP_005267585.1:p.His257=
XM_005267529.2:c.666C>T	XP_005267586.1:p.His222=
XM_011536642.2:c.*151C>T	XP_011534944.1:n.*151C>T
XM_017021216.2:c.129C>T	XP_016876705.1:p.His43=
XM_017021217.1:c.129C>T	XP_016876706.1:p.His43=