Canonical Allele Identifier: CA117651

Gene: TINF2

Linked Data

• ClinVar Variation Id: 5625
• ClinVar RCV Id: RCV000005978 ; RCV000005979 ; RCV001509450 ; RCV001382425 ; RCV002490324
• dbSNP Id: rs121918544
• MyVariant Identifiers: chr14:g.24709841C>T (hg19) ; chr14:g.24240635C>T (hg38)
• PubMed: PMID:18252230 ; PMID:18979121 ; PMID:21199492 ; PMID:21477109 ; PMID:21536674

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1148G>A
ENST00000557921.3:c.737G>A	ENSP00000453157.3:p.Arg246His
ENST00000699682.1:n.1235G>A
ENST00000699683.1:n.1285G>A
ENST00000699684.1:c.*438G>A	ENSP00000514523.1:n.*438G>A
ENST00000699685.1:n.1049G>A
ENST00000699686.1:c.638G>A	ENSP00000514524.1:p.Arg213His
ENST00000699687.1:c.740G>A	ENSP00000514525.1:p.Arg247His
ENST00000699688.1:n.1045G>A
ENST00000699689.1:n.1401G>A
ENST00000699690.1:n.1598G>A
ENST00000699691.1:n.1742G>A
ENST00000699693.1:n.1262G>A
ENST00000699694.1:n.1504G>A
ENST00000699695.1:c.*217G>A	ENSP00000514526.1:n.*217G>A
ENST00000699696.1:n.1148G>A
ENST00000699697.1:c.845G>A	ENSP00000514527.1:p.Arg282His
ENST00000699698.1:n.766G>A
ENST00000699699.1:n.1169G>A
ENST00000699700.1:n.1292G>A
ENST00000699701.1:c.*225G>A	ENSP00000514528.1:n.*225G>A
ENST00000267415.12:c.845G>A MANE Select	ENSP00000267415.7:p.Arg282His
ENST00000557921.2:c.737G>A	ENSP00000453157.2:p.Arg246His
ENST00000646753.1:c.740G>A	ENSP00000494065.1:p.Arg247His
ENST00000267415.11:c.845G>A	ENSP00000267415.7:p.Arg282His
ENST00000399423.8:c.845G>A	ENSP00000382350.4:p.Arg282His
ENST00000558476.5:c.407G>A	ENSP00000452724.1:p.Arg136His
ENST00000558566.1:c.*217G>A	ENSP00000453025.1:n.*217G>A
ENST00000559019.1:c.*217G>A	ENSP00000453675.1:n.*217G>A
ENST00000559549.1:n.571G>A
ENST00000559969.5:c.757+44G>A
ENST00000626689.2:c.*217G>A	ENSP00000486681.1:n.*217G>A
NM_001099274.1:c.845G>A	NP_001092744.1:p.Arg282His
NM_012461.2:c.845G>A	NP_036593.2:p.Arg282His
XM_005267528.2:c.845G>A	XP_005267585.1:p.Arg282His
XM_005267529.2:c.740G>A	XP_005267586.1:p.Arg247His
NM_001099274.2:c.845G>A	NP_001092744.1:p.Arg282His
NM_001363668.1:c.740G>A	NP_001350597.1:p.Arg247His
NM_012461.3:c.845G>A	NP_036593.2:p.Arg282His
XM_011536642.2:c.*225G>A	XP_011534944.1:n.*225G>A
XM_017021216.2:c.203G>A	XP_016876705.1:p.Arg68His
XM_017021217.1:c.203G>A	XP_016876706.1:p.Arg68His
NM_001099274.3:c.845G>A MANE Select	NP_001092744.1:p.Arg282His
NM_001363668.2:c.740G>A	NP_001350597.1:p.Arg247His