Canonical Allele Identifier: CA389225528

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709841C>A (hg19) ; chr14:g.24240635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240635C>A , CM000676.2:g.24240635C>A	GRCh38
NC_000014.8:g.24709841C>A , CM000676.1:g.24709841C>A	GRCh37
NC_000014.7:g.23779681C>A	NCBI36
NG_016650.1:g.7040G>T
NG_054634.1:g.13219C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1148G>T
ENST00000557921.3:c.737G>T	ENSP00000453157.3:p.Arg246Leu
ENST00000699682.1:n.1235G>T
ENST00000699683.1:n.1285G>T
ENST00000699684.1:c.*438G>T	ENSP00000514523.1:n.*438G>T
ENST00000699685.1:n.1049G>T
ENST00000699686.1:c.638G>T	ENSP00000514524.1:p.Arg213Leu
ENST00000699687.1:c.740G>T	ENSP00000514525.1:p.Arg247Leu
ENST00000699688.1:n.1045G>T
ENST00000699689.1:n.1401G>T
ENST00000699690.1:n.1598G>T
ENST00000699691.1:n.1742G>T
ENST00000699693.1:n.1262G>T
ENST00000699694.1:n.1504G>T
ENST00000699695.1:c.*217G>T	ENSP00000514526.1:n.*217G>T
ENST00000699696.1:n.1148G>T
ENST00000699697.1:c.845G>T	ENSP00000514527.1:p.Arg282Leu
ENST00000699698.1:n.766G>T
ENST00000699699.1:n.1169G>T
ENST00000699700.1:n.1292G>T
ENST00000699701.1:c.*225G>T	ENSP00000514528.1:n.*225G>T
ENST00000267415.12:c.845G>T MANE Select	ENSP00000267415.7:p.Arg282Leu
ENST00000557921.2:c.737G>T	ENSP00000453157.2:p.Arg246Leu
ENST00000646753.1:c.740G>T	ENSP00000494065.1:p.Arg247Leu
ENST00000267415.11:c.845G>T	ENSP00000267415.7:p.Arg282Leu
ENST00000399423.8:c.845G>T	ENSP00000382350.4:p.Arg282Leu
ENST00000558476.5:c.407G>T	ENSP00000452724.1:p.Arg136Leu
ENST00000558566.1:c.*217G>T	ENSP00000453025.1:n.*217G>T
ENST00000559019.1:c.*217G>T	ENSP00000453675.1:n.*217G>T
ENST00000559549.1:n.571G>T
ENST00000559969.5:c.757+44G>T
ENST00000626689.2:c.*217G>T	ENSP00000486681.1:n.*217G>T
NM_001099274.1:c.845G>T	NP_001092744.1:p.Arg282Leu
NM_012461.2:c.845G>T	NP_036593.2:p.Arg282Leu
XM_005267528.2:c.845G>T	XP_005267585.1:p.Arg282Leu
XM_005267529.2:c.740G>T	XP_005267586.1:p.Arg247Leu
NM_001099274.2:c.845G>T	NP_001092744.1:p.Arg282Leu
NM_001363668.1:c.740G>T	NP_001350597.1:p.Arg247Leu
NM_012461.3:c.845G>T	NP_036593.2:p.Arg282Leu
XM_011536642.2:c.*225G>T	XP_011534944.1:n.*225G>T
XM_017021216.2:c.203G>T	XP_016876705.1:p.Arg68Leu
XM_017021217.1:c.203G>T	XP_016876706.1:p.Arg68Leu
NM_001099274.3:c.845G>T MANE Select	NP_001092744.1:p.Arg282Leu
NM_001363668.2:c.740G>T	NP_001350597.1:p.Arg247Leu