Canonical Allele Identifier: CA389225565

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709845C>A (hg19) ; chr14:g.24240639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240639C>A , CM000676.2:g.24240639C>A	GRCh38
NC_000014.8:g.24709845C>A , CM000676.1:g.24709845C>A	GRCh37
NC_000014.7:g.23779685C>A	NCBI36
NG_016650.1:g.7036G>T
NG_054634.1:g.13223C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1144G>T
ENST00000557921.3:c.733G>T	ENSP00000453157.3:p.Glu245Ter
ENST00000699682.1:n.1231G>T
ENST00000699683.1:n.1281G>T
ENST00000699684.1:c.*434G>T	ENSP00000514523.1:n.*434G>T
ENST00000699685.1:n.1045G>T
ENST00000699686.1:c.634G>T	ENSP00000514524.1:p.Glu212Ter
ENST00000699687.1:c.736G>T	ENSP00000514525.1:p.Glu246Ter
ENST00000699688.1:n.1041G>T
ENST00000699689.1:n.1397G>T
ENST00000699690.1:n.1594G>T
ENST00000699691.1:n.1738G>T
ENST00000699693.1:n.1258G>T
ENST00000699694.1:n.1500G>T
ENST00000699695.1:c.*213G>T	ENSP00000514526.1:n.*213G>T
ENST00000699696.1:n.1144G>T
ENST00000699697.1:c.841G>T	ENSP00000514527.1:p.Glu281Ter
ENST00000699698.1:n.762G>T
ENST00000699699.1:n.1165G>T
ENST00000699700.1:n.1288G>T
ENST00000699701.1:c.*221G>T	ENSP00000514528.1:n.*221G>T
ENST00000267415.12:c.841G>T MANE Select	ENSP00000267415.7:p.Glu281Ter
ENST00000557921.2:c.733G>T	ENSP00000453157.2:p.Glu245Ter
ENST00000646753.1:c.736G>T	ENSP00000494065.1:p.Glu246Ter
ENST00000267415.11:c.841G>T	ENSP00000267415.7:p.Glu281Ter
ENST00000399423.8:c.841G>T	ENSP00000382350.4:p.Glu281Ter
ENST00000558476.5:c.403G>T	ENSP00000452724.1:p.Glu135Ter
ENST00000558566.1:c.*213G>T	ENSP00000453025.1:n.*213G>T
ENST00000559019.1:c.*213G>T	ENSP00000453675.1:n.*213G>T
ENST00000559549.1:n.567G>T
ENST00000559969.5:c.757+40G>T
ENST00000626689.2:c.*213G>T	ENSP00000486681.1:n.*213G>T
NM_001099274.1:c.841G>T	NP_001092744.1:p.Glu281Ter
NM_012461.2:c.841G>T	NP_036593.2:p.Glu281Ter
XM_005267528.2:c.841G>T	XP_005267585.1:p.Glu281Ter
XM_005267529.2:c.736G>T	XP_005267586.1:p.Glu246Ter
NM_001099274.2:c.841G>T	NP_001092744.1:p.Glu281Ter
NM_001363668.1:c.736G>T	NP_001350597.1:p.Glu246Ter
NM_012461.3:c.841G>T	NP_036593.2:p.Glu281Ter
XM_011536642.2:c.*221G>T	XP_011534944.1:n.*221G>T
XM_017021216.2:c.199G>T	XP_016876705.1:p.Glu67Ter
XM_017021217.1:c.199G>T	XP_016876706.1:p.Glu67Ter
NM_001099274.3:c.841G>T MANE Select	NP_001092744.1:p.Glu281Ter
NM_001363668.2:c.736G>T	NP_001350597.1:p.Glu246Ter