Canonical Allele Identifier: CA389225850

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1692549
• ClinVar RCV Id: RCV002255935
• dbSNP Id: rs2138998293
• MyVariant Identifiers: chr14:g.24709863T>G (hg19) ; chr14:g.24240657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240657T>G , CM000676.2:g.24240657T>G	GRCh38
NC_000014.8:g.24709863T>G , CM000676.1:g.24709863T>G	GRCh37
NC_000014.7:g.23779703T>G	NCBI36
NG_016650.1:g.7018A>C
NG_054634.1:g.13241T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1126A>C
ENST00000557921.3:c.715A>C	ENSP00000453157.3:p.Thr239Pro
ENST00000699682.1:n.1213A>C
ENST00000699683.1:n.1263A>C
ENST00000699684.1:c.*416A>C	ENSP00000514523.1:n.*416A>C
ENST00000699685.1:n.1027A>C
ENST00000699686.1:c.616A>C	ENSP00000514524.1:p.Thr206Pro
ENST00000699687.1:c.718A>C	ENSP00000514525.1:p.Thr240Pro
ENST00000699688.1:n.1023A>C
ENST00000699689.1:n.1379A>C
ENST00000699690.1:n.1576A>C
ENST00000699691.1:n.1720A>C
ENST00000699693.1:n.1240A>C
ENST00000699694.1:n.1482A>C
ENST00000699695.1:c.*195A>C	ENSP00000514526.1:n.*195A>C
ENST00000699696.1:n.1126A>C
ENST00000699697.1:c.823A>C	ENSP00000514527.1:p.Thr275Pro
ENST00000699698.1:n.744A>C
ENST00000699699.1:n.1147A>C
ENST00000699700.1:n.1270A>C
ENST00000699701.1:c.*203A>C	ENSP00000514528.1:n.*203A>C
ENST00000267415.12:c.823A>C MANE Select	ENSP00000267415.7:p.Thr275Pro
ENST00000557921.2:c.715A>C	ENSP00000453157.2:p.Thr239Pro
ENST00000646753.1:c.718A>C	ENSP00000494065.1:p.Thr240Pro
ENST00000267415.11:c.823A>C	ENSP00000267415.7:p.Thr275Pro
ENST00000399423.8:c.823A>C	ENSP00000382350.4:p.Thr275Pro
ENST00000558476.5:c.385A>C	ENSP00000452724.1:p.Thr129Pro
ENST00000558566.1:c.*195A>C	ENSP00000453025.1:n.*195A>C
ENST00000559019.1:c.*195A>C	ENSP00000453675.1:n.*195A>C
ENST00000559549.1:n.549A>C
ENST00000559969.5:c.757+22A>C
ENST00000626689.2:c.*195A>C	ENSP00000486681.1:n.*195A>C
NM_001099274.1:c.823A>C	NP_001092744.1:p.Thr275Pro
NM_012461.2:c.823A>C	NP_036593.2:p.Thr275Pro
XM_005267528.2:c.823A>C	XP_005267585.1:p.Thr275Pro
XM_005267529.2:c.718A>C	XP_005267586.1:p.Thr240Pro
NM_001099274.2:c.823A>C	NP_001092744.1:p.Thr275Pro
NM_001363668.1:c.718A>C	NP_001350597.1:p.Thr240Pro
NM_012461.3:c.823A>C	NP_036593.2:p.Thr275Pro
XM_011536642.2:c.*203A>C	XP_011534944.1:n.*203A>C
XM_017021216.2:c.181A>C	XP_016876705.1:p.Thr61Pro
XM_017021217.1:c.181A>C	XP_016876706.1:p.Thr61Pro
NM_001099274.3:c.823A>C MANE Select	NP_001092744.1:p.Thr275Pro
NM_001363668.2:c.718A>C	NP_001350597.1:p.Thr240Pro