Canonical Allele Identifier: CA117650

Gene: TINF2

Linked Data

• ClinVar Variation Id: 5624
• ClinVar RCV Id: RCV000005977 ; RCV000032165 ; RCV003441705
• dbSNP Id: rs121918543
• MyVariant Identifiers: chr14:g.24709848T>C (hg19) ; chr14:g.24240642T>C (hg38)
• PubMed: PMID:18252230 ; PMID:20301779 ; PMID:21536674

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240642T>C , CM000676.2:g.24240642T>C	GRCh38
NC_000014.8:g.24709848T>C , CM000676.1:g.24709848T>C	GRCh37
NC_000014.7:g.23779688T>C	NCBI36
NG_016650.1:g.7033A>G
NG_054634.1:g.13226T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1141A>G
ENST00000557921.3:c.730A>G	ENSP00000453157.3:p.Lys244Glu
ENST00000699682.1:n.1228A>G
ENST00000699683.1:n.1278A>G
ENST00000699684.1:c.*431A>G	ENSP00000514523.1:n.*431A>G
ENST00000699685.1:n.1042A>G
ENST00000699686.1:c.631A>G	ENSP00000514524.1:p.Lys211Glu
ENST00000699687.1:c.733A>G	ENSP00000514525.1:p.Lys245Glu
ENST00000699688.1:n.1038A>G
ENST00000699689.1:n.1394A>G
ENST00000699690.1:n.1591A>G
ENST00000699691.1:n.1735A>G
ENST00000699693.1:n.1255A>G
ENST00000699694.1:n.1497A>G
ENST00000699695.1:c.*210A>G	ENSP00000514526.1:n.*210A>G
ENST00000699696.1:n.1141A>G
ENST00000699697.1:c.838A>G	ENSP00000514527.1:p.Lys280Glu
ENST00000699698.1:n.759A>G
ENST00000699699.1:n.1162A>G
ENST00000699700.1:n.1285A>G
ENST00000699701.1:c.*218A>G	ENSP00000514528.1:n.*218A>G
ENST00000267415.12:c.838A>G MANE Select	ENSP00000267415.7:p.Lys280Glu
ENST00000557921.2:c.730A>G	ENSP00000453157.2:p.Lys244Glu
ENST00000646753.1:c.733A>G	ENSP00000494065.1:p.Lys245Glu
ENST00000267415.11:c.838A>G	ENSP00000267415.7:p.Lys280Glu
ENST00000399423.8:c.838A>G	ENSP00000382350.4:p.Lys280Glu
ENST00000558476.5:c.400A>G	ENSP00000452724.1:p.Lys134Glu
ENST00000558566.1:c.*210A>G	ENSP00000453025.1:n.*210A>G
ENST00000559019.1:c.*210A>G	ENSP00000453675.1:n.*210A>G
ENST00000559549.1:n.564A>G
ENST00000559969.5:c.757+37A>G
ENST00000626689.2:c.*210A>G	ENSP00000486681.1:n.*210A>G
NM_001099274.1:c.838A>G	NP_001092744.1:p.Lys280Glu
NM_012461.2:c.838A>G	NP_036593.2:p.Lys280Glu
XM_005267528.2:c.838A>G	XP_005267585.1:p.Lys280Glu
XM_005267529.2:c.733A>G	XP_005267586.1:p.Lys245Glu
NM_001099274.2:c.838A>G	NP_001092744.1:p.Lys280Glu
NM_001363668.1:c.733A>G	NP_001350597.1:p.Lys245Glu
NM_012461.3:c.838A>G	NP_036593.2:p.Lys280Glu
XM_011536642.2:c.*218A>G	XP_011534944.1:n.*218A>G
XM_017021216.2:c.196A>G	XP_016876705.1:p.Lys66Glu
XM_017021217.1:c.196A>G	XP_016876706.1:p.Lys66Glu
NM_001099274.3:c.838A>G MANE Select	NP_001092744.1:p.Lys280Glu
NM_001363668.2:c.733A>G	NP_001350597.1:p.Lys245Glu