Canonical Allele Identifier: CA389226543

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709919C>A (hg19) ; chr14:g.24240713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240713C>A , CM000676.2:g.24240713C>A	GRCh38
NC_000014.8:g.24709919C>A , CM000676.1:g.24709919C>A	GRCh37
NC_000014.7:g.23779759C>A	NCBI36
NG_016650.1:g.6962G>T
NG_054634.1:g.13297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1070G>T
ENST00000557921.3:c.659G>T	ENSP00000453157.3:p.Arg220Leu
ENST00000699682.1:n.1157G>T
ENST00000699683.1:n.1207G>T
ENST00000699684.1:c.*360G>T	ENSP00000514523.1:n.*360G>T
ENST00000699685.1:n.971G>T
ENST00000699686.1:c.560G>T	ENSP00000514524.1:p.Arg187Leu
ENST00000699687.1:c.662G>T	ENSP00000514525.1:p.Arg221Leu
ENST00000699688.1:n.967G>T
ENST00000699689.1:n.1323G>T
ENST00000699690.1:n.1520G>T
ENST00000699691.1:n.1664G>T
ENST00000699693.1:n.1184G>T
ENST00000699694.1:n.1426G>T
ENST00000699695.1:c.*139G>T	ENSP00000514526.1:n.*139G>T
ENST00000699696.1:n.1070G>T
ENST00000699697.1:c.767G>T	ENSP00000514527.1:p.Arg256Leu
ENST00000699698.1:n.688G>T
ENST00000699699.1:n.1091G>T
ENST00000699700.1:n.1214G>T
ENST00000699701.1:c.*147G>T	ENSP00000514528.1:n.*147G>T
ENST00000267415.12:c.767G>T MANE Select	ENSP00000267415.7:p.Arg256Leu
ENST00000557921.2:c.659G>T	ENSP00000453157.2:p.Arg220Leu
ENST00000646753.1:c.662G>T	ENSP00000494065.1:p.Arg221Leu
ENST00000267415.11:c.767G>T	ENSP00000267415.7:p.Arg256Leu
ENST00000399423.8:c.767G>T	ENSP00000382350.4:p.Arg256Leu
ENST00000558476.5:c.329G>T	ENSP00000452724.1:p.Arg110Leu
ENST00000558566.1:c.*139G>T	ENSP00000453025.1:n.*139G>T
ENST00000559019.1:c.*139G>T	ENSP00000453675.1:n.*139G>T
ENST00000559549.1:n.493G>T
ENST00000559969.5:c.723G>T
ENST00000626689.2:c.*139G>T	ENSP00000486681.1:n.*139G>T
NM_001099274.1:c.767G>T	NP_001092744.1:p.Arg256Leu
NM_012461.2:c.767G>T	NP_036593.2:p.Arg256Leu
XM_005267528.2:c.767G>T	XP_005267585.1:p.Arg256Leu
XM_005267529.2:c.662G>T	XP_005267586.1:p.Arg221Leu
NM_001099274.2:c.767G>T	NP_001092744.1:p.Arg256Leu
NM_001363668.1:c.662G>T	NP_001350597.1:p.Arg221Leu
NM_012461.3:c.767G>T	NP_036593.2:p.Arg256Leu
XM_011536642.2:c.*147G>T	XP_011534944.1:n.*147G>T
XM_017021216.2:c.125G>T	XP_016876705.1:p.Arg42Leu
XM_017021217.1:c.125G>T	XP_016876706.1:p.Arg42Leu
NM_001099274.3:c.767G>T MANE Select	NP_001092744.1:p.Arg256Leu
NM_001363668.2:c.662G>T	NP_001350597.1:p.Arg221Leu