Canonical Allele Identifier: CA389226195

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709885T>A (hg19) ; chr14:g.24240679T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240679T>A , CM000676.2:g.24240679T>A	GRCh38
NC_000014.8:g.24709885T>A , CM000676.1:g.24709885T>A	GRCh37
NC_000014.7:g.23779725T>A	NCBI36
NG_016650.1:g.6996A>T
NG_054634.1:g.13263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1104A>T
ENST00000557921.3:c.693A>T	ENSP00000453157.3:p.Arg231Ser
ENST00000699682.1:n.1191A>T
ENST00000699683.1:n.1241A>T
ENST00000699684.1:c.*394A>T	ENSP00000514523.1:n.*394A>T
ENST00000699685.1:n.1005A>T
ENST00000699686.1:c.594A>T	ENSP00000514524.1:p.Arg198Ser
ENST00000699687.1:c.696A>T	ENSP00000514525.1:p.Arg232Ser
ENST00000699688.1:n.1001A>T
ENST00000699689.1:n.1357A>T
ENST00000699690.1:n.1554A>T
ENST00000699691.1:n.1698A>T
ENST00000699693.1:n.1218A>T
ENST00000699694.1:n.1460A>T
ENST00000699695.1:c.*173A>T	ENSP00000514526.1:n.*173A>T
ENST00000699696.1:n.1104A>T
ENST00000699697.1:c.801A>T	ENSP00000514527.1:p.Arg267Ser
ENST00000699698.1:n.722A>T
ENST00000699699.1:n.1125A>T
ENST00000699700.1:n.1248A>T
ENST00000699701.1:c.*181A>T	ENSP00000514528.1:n.*181A>T
ENST00000267415.12:c.801A>T MANE Select	ENSP00000267415.7:p.Arg267Ser
ENST00000557921.2:c.693A>T	ENSP00000453157.2:p.Arg231Ser
ENST00000646753.1:c.696A>T	ENSP00000494065.1:p.Arg232Ser
ENST00000267415.11:c.801A>T	ENSP00000267415.7:p.Arg267Ser
ENST00000399423.8:c.801A>T	ENSP00000382350.4:p.Arg267Ser
ENST00000558476.5:c.363A>T	ENSP00000452724.1:p.Arg121Ser
ENST00000558566.1:c.*173A>T	ENSP00000453025.1:n.*173A>T
ENST00000559019.1:c.*173A>T	ENSP00000453675.1:n.*173A>T
ENST00000559549.1:n.527A>T
ENST00000559969.5:c.757A>T
ENST00000626689.2:c.*173A>T	ENSP00000486681.1:n.*173A>T
NM_001099274.1:c.801A>T	NP_001092744.1:p.Arg267Ser
NM_012461.2:c.801A>T	NP_036593.2:p.Arg267Ser
XM_005267528.2:c.801A>T	XP_005267585.1:p.Arg267Ser
XM_005267529.2:c.696A>T	XP_005267586.1:p.Arg232Ser
NM_001099274.2:c.801A>T	NP_001092744.1:p.Arg267Ser
NM_001363668.1:c.696A>T	NP_001350597.1:p.Arg232Ser
NM_012461.3:c.801A>T	NP_036593.2:p.Arg267Ser
XM_011536642.2:c.*181A>T	XP_011534944.1:n.*181A>T
XM_017021216.2:c.159A>T	XP_016876705.1:p.Arg53Ser
XM_017021217.1:c.159A>T	XP_016876706.1:p.Arg53Ser
NM_001099274.3:c.801A>T MANE Select	NP_001092744.1:p.Arg267Ser
NM_001363668.2:c.696A>T	NP_001350597.1:p.Arg232Ser