Canonical Allele Identifier: CA389225298

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240611A>G , CM000676.2:g.24240611A>G	GRCh38
NC_000014.8:g.24709817A>G , CM000676.1:g.24709817A>G	GRCh37
NC_000014.7:g.23779657A>G	NCBI36
NG_016650.1:g.7064T>C
NG_054634.1:g.13195A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.869T>C MANE Select	NP_001092744.1:p.Phe290Ser
ENST00000267415.12:c.869T>C MANE Select	ENSP00000267415.7:p.Phe290Ser
NM_001099274.1:c.869T>C	NP_001092744.1:p.Phe290Ser
NM_001099274.2:c.869T>C	NP_001092744.1:p.Phe290Ser
NM_001363668.1:c.764T>C	NP_001350597.1:p.Phe255Ser
NM_001363668.2:c.764T>C	NP_001350597.1:p.Phe255Ser
NM_012461.2:c.869T>C	NP_036593.2:p.Phe290Ser
NM_012461.3:c.869T>C	NP_036593.2:p.Phe290Ser
ENST00000267415.11:c.869T>C	ENSP00000267415.7:p.Phe290Ser
ENST00000399423.8:c.869T>C	ENSP00000382350.4:p.Phe290Ser
ENST00000557915.2:n.1172T>C
ENST00000557921.2:c.761T>C	ENSP00000453157.2:p.Phe254Ser
ENST00000557921.3:c.761T>C	ENSP00000453157.3:p.Phe254Ser
ENST00000558476.5:c.431T>C	ENSP00000452724.1:p.Phe144Ser
ENST00000558566.1:c.*241T>C	ENSP00000453025.1:n.*241T>C
ENST00000559019.1:c.*241T>C	ENSP00000453675.1:n.*241T>C
ENST00000559549.1:n.595T>C
ENST00000559969.5:c.757+68T>C
ENST00000626689.2:c.*241T>C	ENSP00000486681.1:n.*241T>C
ENST00000646753.1:c.764T>C	ENSP00000494065.1:p.Phe255Ser
ENST00000699682.1:n.1259T>C
ENST00000699683.1:n.1309T>C
ENST00000699684.1:c.*462T>C	ENSP00000514523.1:n.*462T>C
ENST00000699685.1:n.1073T>C
ENST00000699686.1:c.662T>C	ENSP00000514524.1:p.Phe221Ser
ENST00000699687.1:c.764T>C	ENSP00000514525.1:p.Phe255Ser
ENST00000699688.1:n.1069T>C
ENST00000699689.1:n.1425T>C
ENST00000699690.1:n.1622T>C
ENST00000699691.1:n.1766T>C
ENST00000699693.1:n.1286T>C
ENST00000699694.1:n.1528T>C
ENST00000699695.1:c.*241T>C	ENSP00000514526.1:n.*241T>C
ENST00000699696.1:n.1172T>C
ENST00000699697.1:c.869T>C	ENSP00000514527.1:p.Phe290Ser
ENST00000699698.1:n.790T>C
ENST00000699699.1:n.1193T>C
ENST00000699700.1:n.1316T>C
ENST00000699701.1:c.*249T>C	ENSP00000514528.1:n.*249T>C
XM_005267528.2:c.869T>C	XP_005267585.1:p.Phe290Ser
XM_005267529.2:c.764T>C	XP_005267586.1:p.Phe255Ser
XM_011536642.2:c.*249T>C	XP_011534944.1:n.*249T>C
XM_017021216.2:c.227T>C	XP_016876705.1:p.Phe76Ser
XM_017021217.1:c.227T>C	XP_016876706.1:p.Phe76Ser