Canonical Allele Identifier: CA117653

Gene: TINF2

Linked Data

• ClinVar Variation Id: 5627
• ClinVar RCV Id: RCV000005981 ; RCV000032169 ; RCV000434257 ; RCV001054196
• dbSNP Id: rs121918545
• gnomAD v2: 14-24709842-G-A
• MyVariant Identifiers: chr14:g.24709842G>A (hg19) ; chr14:g.24240636G>A (hg38)
• PubMed: PMID:18669893 ; PMID:20301779

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1147C>T
ENST00000557921.3:c.736C>T	ENSP00000453157.3:p.Arg246Cys
ENST00000699682.1:n.1234C>T
ENST00000699683.1:n.1284C>T
ENST00000699684.1:c.*437C>T	ENSP00000514523.1:n.*437C>T
ENST00000699685.1:n.1048C>T
ENST00000699686.1:c.637C>T	ENSP00000514524.1:p.Arg213Cys
ENST00000699687.1:c.739C>T	ENSP00000514525.1:p.Arg247Cys
ENST00000699688.1:n.1044C>T
ENST00000699689.1:n.1400C>T
ENST00000699690.1:n.1597C>T
ENST00000699691.1:n.1741C>T
ENST00000699693.1:n.1261C>T
ENST00000699694.1:n.1503C>T
ENST00000699695.1:c.*216C>T	ENSP00000514526.1:n.*216C>T
ENST00000699696.1:n.1147C>T
ENST00000699697.1:c.844C>T	ENSP00000514527.1:p.Arg282Cys
ENST00000699698.1:n.765C>T
ENST00000699699.1:n.1168C>T
ENST00000699700.1:n.1291C>T
ENST00000699701.1:c.*224C>T	ENSP00000514528.1:n.*224C>T
ENST00000267415.12:c.844C>T MANE Select	ENSP00000267415.7:p.Arg282Cys
ENST00000557921.2:c.736C>T	ENSP00000453157.2:p.Arg246Cys
ENST00000646753.1:c.739C>T	ENSP00000494065.1:p.Arg247Cys
ENST00000267415.11:c.844C>T	ENSP00000267415.7:p.Arg282Cys
ENST00000399423.8:c.844C>T	ENSP00000382350.4:p.Arg282Cys
ENST00000558476.5:c.406C>T	ENSP00000452724.1:p.Arg136Cys
ENST00000558566.1:c.*216C>T	ENSP00000453025.1:n.*216C>T
ENST00000559019.1:c.*216C>T	ENSP00000453675.1:n.*216C>T
ENST00000559549.1:n.570C>T
ENST00000559969.5:c.757+43C>T
ENST00000626689.2:c.*216C>T	ENSP00000486681.1:n.*216C>T
NM_001099274.1:c.844C>T	NP_001092744.1:p.Arg282Cys
NM_012461.2:c.844C>T	NP_036593.2:p.Arg282Cys
XM_005267528.2:c.844C>T	XP_005267585.1:p.Arg282Cys
XM_005267529.2:c.739C>T	XP_005267586.1:p.Arg247Cys
NM_001099274.2:c.844C>T	NP_001092744.1:p.Arg282Cys
NM_001363668.1:c.739C>T	NP_001350597.1:p.Arg247Cys
NM_012461.3:c.844C>T	NP_036593.2:p.Arg282Cys
XM_011536642.2:c.*224C>T	XP_011534944.1:n.*224C>T
XM_017021216.2:c.202C>T	XP_016876705.1:p.Arg68Cys
XM_017021217.1:c.202C>T	XP_016876706.1:p.Arg68Cys
NM_001099274.3:c.844C>T MANE Select	NP_001092744.1:p.Arg282Cys
NM_001363668.2:c.739C>T	NP_001350597.1:p.Arg247Cys