Canonical Allele Identifier: CA389224162

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709723T>G (hg19) ; chr14:g.24240517T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240517T>G , CM000676.2:g.24240517T>G	GRCh38
NC_000014.8:g.24709723T>G , CM000676.1:g.24709723T>G	GRCh37
NC_000014.7:g.23779563T>G	NCBI36
NG_016650.1:g.7158A>C
NG_054634.1:g.13101T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1266A>C
ENST00000557921.3:c.855A>C	ENSP00000453157.3:p.Arg285Ser
ENST00000699682.1:n.1353A>C
ENST00000699683.1:n.1403A>C
ENST00000699684.1:c.*556A>C	ENSP00000514523.1:n.*556A>C
ENST00000699685.1:n.1167A>C
ENST00000699686.1:c.756A>C	ENSP00000514524.1:p.Arg252Ser
ENST00000699687.1:c.858A>C	ENSP00000514525.1:p.Arg286Ser
ENST00000699688.1:n.1163A>C
ENST00000699689.1:n.1519A>C
ENST00000699690.1:n.1716A>C
ENST00000699691.1:n.1860A>C
ENST00000699693.1:n.1380A>C
ENST00000699694.1:n.1622A>C
ENST00000699695.1:c.*335A>C	ENSP00000514526.1:n.*335A>C
ENST00000699696.1:n.1266A>C
ENST00000699697.1:c.963A>C	ENSP00000514527.1:p.Arg321Ser
ENST00000699698.1:n.884A>C
ENST00000699699.1:n.1287A>C
ENST00000699700.1:n.1410A>C
ENST00000699701.1:c.*343A>C	ENSP00000514528.1:n.*343A>C
ENST00000267415.12:c.963A>C MANE Select	ENSP00000267415.7:p.Arg321Ser
ENST00000557921.2:c.855A>C	ENSP00000453157.2:p.Arg285Ser
ENST00000646753.1:c.858A>C	ENSP00000494065.1:p.Arg286Ser
ENST00000267415.11:c.963A>C	ENSP00000267415.7:p.Arg321Ser
ENST00000399423.8:c.963A>C	ENSP00000382350.4:p.Arg321Ser
ENST00000557915.1:n.82A>C
ENST00000558566.1:c.*335A>C	ENSP00000453025.1:n.*335A>C
ENST00000559019.1:c.*335A>C	ENSP00000453675.1:n.*335A>C
ENST00000559969.5:c.758-37A>C
ENST00000626689.2:c.*335A>C	ENSP00000486681.1:n.*335A>C
NM_001099274.1:c.963A>C	NP_001092744.1:p.Arg321Ser
NM_012461.2:c.963A>C	NP_036593.2:p.Arg321Ser
XM_005267528.2:c.963A>C	XP_005267585.1:p.Arg321Ser
XM_005267529.2:c.858A>C	XP_005267586.1:p.Arg286Ser
NM_001099274.2:c.963A>C	NP_001092744.1:p.Arg321Ser
NM_001363668.1:c.858A>C	NP_001350597.1:p.Arg286Ser
NM_012461.3:c.963A>C	NP_036593.2:p.Arg321Ser
XM_011536642.2:c.*343A>C	XP_011534944.1:n.*343A>C
XM_017021216.2:c.321A>C	XP_016876705.1:p.Arg107Ser
XM_017021217.1:c.321A>C	XP_016876706.1:p.Arg107Ser
NM_001099274.3:c.963A>C MANE Select	NP_001092744.1:p.Arg321Ser
NM_001363668.2:c.858A>C	NP_001350597.1:p.Arg286Ser