Canonical Allele Identifier: CA117652

Gene: TINF2

Linked Data

• ClinVar Variation Id: 5626
• ClinVar RCV Id: RCV000005980 ; RCV000032168 ; RCV001382426
• dbSNP Id: rs121918545
• MyVariant Identifiers: chr14:g.24709842G>T (hg19) ; chr14:g.24240636G>T (hg38)
• PubMed: PMID:18252230 ; PMID:20301779 ; PMID:21536674

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240636G>T , CM000676.2:g.24240636G>T	GRCh38
NC_000014.8:g.24709842G>T , CM000676.1:g.24709842G>T	GRCh37
NC_000014.7:g.23779682G>T	NCBI36
NG_016650.1:g.7039C>A
NG_054634.1:g.13220G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1147C>A
ENST00000557921.3:c.736C>A	ENSP00000453157.3:p.Arg246Ser
ENST00000699682.1:n.1234C>A
ENST00000699683.1:n.1284C>A
ENST00000699684.1:c.*437C>A	ENSP00000514523.1:n.*437C>A
ENST00000699685.1:n.1048C>A
ENST00000699686.1:c.637C>A	ENSP00000514524.1:p.Arg213Ser
ENST00000699687.1:c.739C>A	ENSP00000514525.1:p.Arg247Ser
ENST00000699688.1:n.1044C>A
ENST00000699689.1:n.1400C>A
ENST00000699690.1:n.1597C>A
ENST00000699691.1:n.1741C>A
ENST00000699693.1:n.1261C>A
ENST00000699694.1:n.1503C>A
ENST00000699695.1:c.*216C>A	ENSP00000514526.1:n.*216C>A
ENST00000699696.1:n.1147C>A
ENST00000699697.1:c.844C>A	ENSP00000514527.1:p.Arg282Ser
ENST00000699698.1:n.765C>A
ENST00000699699.1:n.1168C>A
ENST00000699700.1:n.1291C>A
ENST00000699701.1:c.*224C>A	ENSP00000514528.1:n.*224C>A
ENST00000267415.12:c.844C>A MANE Select	ENSP00000267415.7:p.Arg282Ser
ENST00000557921.2:c.736C>A	ENSP00000453157.2:p.Arg246Ser
ENST00000646753.1:c.739C>A	ENSP00000494065.1:p.Arg247Ser
ENST00000267415.11:c.844C>A	ENSP00000267415.7:p.Arg282Ser
ENST00000399423.8:c.844C>A	ENSP00000382350.4:p.Arg282Ser
ENST00000558476.5:c.406C>A	ENSP00000452724.1:p.Arg136Ser
ENST00000558566.1:c.*216C>A	ENSP00000453025.1:n.*216C>A
ENST00000559019.1:c.*216C>A	ENSP00000453675.1:n.*216C>A
ENST00000559549.1:n.570C>A
ENST00000559969.5:c.757+43C>A
ENST00000626689.2:c.*216C>A	ENSP00000486681.1:n.*216C>A
NM_001099274.1:c.844C>A	NP_001092744.1:p.Arg282Ser
NM_012461.2:c.844C>A	NP_036593.2:p.Arg282Ser
XM_005267528.2:c.844C>A	XP_005267585.1:p.Arg282Ser
XM_005267529.2:c.739C>A	XP_005267586.1:p.Arg247Ser
NM_001099274.2:c.844C>A	NP_001092744.1:p.Arg282Ser
NM_001363668.1:c.739C>A	NP_001350597.1:p.Arg247Ser
NM_012461.3:c.844C>A	NP_036593.2:p.Arg282Ser
XM_011536642.2:c.*224C>A	XP_011534944.1:n.*224C>A
XM_017021216.2:c.202C>A	XP_016876705.1:p.Arg68Ser
XM_017021217.1:c.202C>A	XP_016876706.1:p.Arg68Ser
NM_001099274.3:c.844C>A MANE Select	NP_001092744.1:p.Arg282Ser
NM_001363668.2:c.739C>A	NP_001350597.1:p.Arg247Ser