Canonical Allele Identifier: CA129791

Gene: TINF2

Linked Data

• ClinVar Variation Id: 31541
• ClinVar RCV Id: RCV000024248
• dbSNP Id: rs387907153
• MyVariant Identifiers: chr14:g.24709881G>A (hg19) ; chr14:g.24240675G>A (hg38)
• PubMed: PMID:21199492 ; PMID:21477109

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240675G>A , CM000676.2:g.24240675G>A	GRCh38
NC_000014.8:g.24709881G>A , CM000676.1:g.24709881G>A	GRCh37
NC_000014.7:g.23779721G>A	NCBI36
NG_016650.1:g.7000C>T
NG_054634.1:g.13259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1108C>T
ENST00000557921.3:c.697C>T	ENSP00000453157.3:p.Gln233Ter
ENST00000699682.1:n.1195C>T
ENST00000699683.1:n.1245C>T
ENST00000699684.1:c.*398C>T	ENSP00000514523.1:n.*398C>T
ENST00000699685.1:n.1009C>T
ENST00000699686.1:c.598C>T	ENSP00000514524.1:p.Gln200Ter
ENST00000699687.1:c.700C>T	ENSP00000514525.1:p.Gln234Ter
ENST00000699688.1:n.1005C>T
ENST00000699689.1:n.1361C>T
ENST00000699690.1:n.1558C>T
ENST00000699691.1:n.1702C>T
ENST00000699693.1:n.1222C>T
ENST00000699694.1:n.1464C>T
ENST00000699695.1:c.*177C>T	ENSP00000514526.1:n.*177C>T
ENST00000699696.1:n.1108C>T
ENST00000699697.1:c.805C>T	ENSP00000514527.1:p.Gln269Ter
ENST00000699698.1:n.726C>T
ENST00000699699.1:n.1129C>T
ENST00000699700.1:n.1252C>T
ENST00000699701.1:c.*185C>T	ENSP00000514528.1:n.*185C>T
ENST00000267415.12:c.805C>T MANE Select	ENSP00000267415.7:p.Gln269Ter
ENST00000557921.2:c.697C>T	ENSP00000453157.2:p.Gln233Ter
ENST00000646753.1:c.700C>T	ENSP00000494065.1:p.Gln234Ter
ENST00000267415.11:c.805C>T	ENSP00000267415.7:p.Gln269Ter
ENST00000399423.8:c.805C>T	ENSP00000382350.4:p.Gln269Ter
ENST00000558476.5:c.367C>T	ENSP00000452724.1:p.Gln123Ter
ENST00000558566.1:c.*177C>T	ENSP00000453025.1:n.*177C>T
ENST00000559019.1:c.*177C>T	ENSP00000453675.1:n.*177C>T
ENST00000559549.1:n.531C>T
ENST00000559969.5:c.757+4C>T
ENST00000626689.2:c.*177C>T	ENSP00000486681.1:n.*177C>T
NM_001099274.1:c.805C>T	NP_001092744.1:p.Gln269Ter
NM_012461.2:c.805C>T	NP_036593.2:p.Gln269Ter
XM_005267528.2:c.805C>T	XP_005267585.1:p.Gln269Ter
XM_005267529.2:c.700C>T	XP_005267586.1:p.Gln234Ter
NM_001099274.2:c.805C>T	NP_001092744.1:p.Gln269Ter
NM_001363668.1:c.700C>T	NP_001350597.1:p.Gln234Ter
NM_012461.3:c.805C>T	NP_036593.2:p.Gln269Ter
XM_011536642.2:c.*185C>T	XP_011534944.1:n.*185C>T
XM_017021216.2:c.163C>T	XP_016876705.1:p.Gln55Ter
XM_017021217.1:c.163C>T	XP_016876706.1:p.Gln55Ter
NM_001099274.3:c.805C>T MANE Select	NP_001092744.1:p.Gln269Ter
NM_001363668.2:c.700C>T	NP_001350597.1:p.Gln234Ter