Canonical Allele Identifier: CA2123849250

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240529G= , CM000676.2:g.24240529G=	GRCh38
NC_000014.8:g.24709735G= , CM000676.1:g.24709735G=	GRCh37
NC_000014.7:g.23779575G=	NCBI36
NG_016650.1:g.7146C=
NG_054634.1:g.13113G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1254C=
ENST00000557921.3:c.843C=	ENSP00000453157.3:p.Ala281=
ENST00000699682.1:n.1341C=
ENST00000699683.1:n.1391C=
ENST00000699684.1:c.*544C=	ENSP00000514523.1:n.*544C=
ENST00000699685.1:n.1155C=
ENST00000699686.1:c.744C=	ENSP00000514524.1:p.Ala248=
ENST00000699687.1:c.846C=	ENSP00000514525.1:p.Ala282=
ENST00000699688.1:n.1151C=
ENST00000699689.1:n.1507C=
ENST00000699690.1:n.1704C=
ENST00000699691.1:n.1848C=
ENST00000699693.1:n.1368C=
ENST00000699694.1:n.1610C=
ENST00000699695.1:c.*323C=	ENSP00000514526.1:n.*323C=
ENST00000699696.1:n.1254C=
ENST00000699697.1:c.951C=	ENSP00000514527.1:p.Ala317=
ENST00000699698.1:n.872C=
ENST00000699699.1:n.1275C=
ENST00000699700.1:n.1398C=
ENST00000699701.1:c.*331C=	ENSP00000514528.1:n.*331C=
ENST00000267415.12:c.951C= MANE Select	ENSP00000267415.7:p.Ala317=
ENST00000557921.2:c.843C=	ENSP00000453157.2:p.Ala281=
ENST00000646753.1:c.846C=	ENSP00000494065.1:p.Ala282=
ENST00000267415.11:c.951C=	ENSP00000267415.7:p.Ala317=
ENST00000399423.8:c.951C=	ENSP00000382350.4:p.Ala317=
ENST00000557915.1:n.70C=
ENST00000558566.1:c.*323C=	ENSP00000453025.1:n.*323C=
ENST00000559019.1:c.*323C=	ENSP00000453675.1:n.*323C=
ENST00000559969.5:c.758-49C=
ENST00000626689.2:c.*323C=	ENSP00000486681.1:n.*323C=
NM_001099274.1:c.951C=	NP_001092744.1:p.Ala317=
NM_012461.2:c.951C=	NP_036593.2:p.Ala317=
XM_005267528.2:c.951C=	XP_005267585.1:p.Ala317=
XM_005267529.2:c.846C=	XP_005267586.1:p.Ala282=
NM_001099274.2:c.951C=	NP_001092744.1:p.Ala317=
NM_001363668.1:c.846C=	NP_001350597.1:p.Ala282=
NM_012461.3:c.951C=	NP_036593.2:p.Ala317=
XM_011536642.2:c.*331C=	XP_011534944.1:n.*331C=
XM_017021216.2:c.309C=	XP_016876705.1:p.Ala103=
XM_017021217.1:c.309C=	XP_016876706.1:p.Ala103=
NM_001099274.3:c.951C= MANE Select	NP_001092744.1:p.Ala317=
NM_001363668.2:c.846C=	NP_001350597.1:p.Ala282=