Canonical Allele Identifier: CA389225953

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240664C>T , CM000676.2:g.24240664C>T	GRCh38
NC_000014.8:g.24709870C>T , CM000676.1:g.24709870C>T	GRCh37
NC_000014.7:g.23779710C>T	NCBI36
NG_016650.1:g.7011G>A
NG_054634.1:g.13248C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.816G>A MANE Select	NP_001092744.1:p.Trp272Ter
ENST00000267415.12:c.816G>A MANE Select	ENSP00000267415.7:p.Trp272Ter
NM_001099274.1:c.816G>A	NP_001092744.1:p.Trp272Ter
NM_001099274.2:c.816G>A	NP_001092744.1:p.Trp272Ter
NM_001363668.1:c.711G>A	NP_001350597.1:p.Trp237Ter
NM_001363668.2:c.711G>A	NP_001350597.1:p.Trp237Ter
NM_012461.2:c.816G>A	NP_036593.2:p.Trp272Ter
NM_012461.3:c.816G>A	NP_036593.2:p.Trp272Ter
ENST00000267415.11:c.816G>A	ENSP00000267415.7:p.Trp272Ter
ENST00000399423.8:c.816G>A	ENSP00000382350.4:p.Trp272Ter
ENST00000557915.2:n.1119G>A
ENST00000557921.2:c.708G>A	ENSP00000453157.2:p.Trp236Ter
ENST00000557921.3:c.708G>A	ENSP00000453157.3:p.Trp236Ter
ENST00000558476.5:c.378G>A	ENSP00000452724.1:p.Trp126Ter
ENST00000558566.1:c.*188G>A	ENSP00000453025.1:n.*188G>A
ENST00000559019.1:c.*188G>A	ENSP00000453675.1:n.*188G>A
ENST00000559549.1:n.542G>A
ENST00000559969.5:c.757+15G>A
ENST00000626689.2:c.*188G>A	ENSP00000486681.1:n.*188G>A
ENST00000646753.1:c.711G>A	ENSP00000494065.1:p.Trp237Ter
ENST00000699682.1:n.1206G>A
ENST00000699683.1:n.1256G>A
ENST00000699684.1:c.*409G>A	ENSP00000514523.1:n.*409G>A
ENST00000699685.1:n.1020G>A
ENST00000699686.1:c.609G>A	ENSP00000514524.1:p.Trp203Ter
ENST00000699687.1:c.711G>A	ENSP00000514525.1:p.Trp237Ter
ENST00000699688.1:n.1016G>A
ENST00000699689.1:n.1372G>A
ENST00000699690.1:n.1569G>A
ENST00000699691.1:n.1713G>A
ENST00000699693.1:n.1233G>A
ENST00000699694.1:n.1475G>A
ENST00000699695.1:c.*188G>A	ENSP00000514526.1:n.*188G>A
ENST00000699696.1:n.1119G>A
ENST00000699697.1:c.816G>A	ENSP00000514527.1:p.Trp272Ter
ENST00000699698.1:n.737G>A
ENST00000699699.1:n.1140G>A
ENST00000699700.1:n.1263G>A
ENST00000699701.1:c.*196G>A	ENSP00000514528.1:n.*196G>A
XM_005267528.2:c.816G>A	XP_005267585.1:p.Trp272Ter
XM_005267529.2:c.711G>A	XP_005267586.1:p.Trp237Ter
XM_011536642.2:c.*196G>A	XP_011534944.1:n.*196G>A
XM_017021216.2:c.174G>A	XP_016876705.1:p.Trp58Ter
XM_017021217.1:c.174G>A	XP_016876706.1:p.Trp58Ter