Canonical Allele Identifier: CA389224002

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709703G>A (hg19) ; chr14:g.24240497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240497G>A , CM000676.2:g.24240497G>A	GRCh38
NC_000014.8:g.24709703G>A , CM000676.1:g.24709703G>A	GRCh37
NC_000014.7:g.23779543G>A	NCBI36
NG_016650.1:g.7178C>T
NG_054634.1:g.13081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1286C>T
ENST00000557921.3:c.875C>T	ENSP00000453157.3:p.Ser292Phe
ENST00000699682.1:n.1373C>T
ENST00000699683.1:n.1423C>T
ENST00000699684.1:c.*576C>T	ENSP00000514523.1:n.*576C>T
ENST00000699685.1:n.1187C>T
ENST00000699686.1:c.776C>T	ENSP00000514524.1:p.Ser259Phe
ENST00000699687.1:c.878C>T	ENSP00000514525.1:p.Ser293Phe
ENST00000699688.1:n.1183C>T
ENST00000699689.1:n.1539C>T
ENST00000699690.1:n.1736C>T
ENST00000699691.1:n.1880C>T
ENST00000699693.1:n.1400C>T
ENST00000699694.1:n.1642C>T
ENST00000699695.1:c.*355C>T	ENSP00000514526.1:n.*355C>T
ENST00000699696.1:n.1286C>T
ENST00000699697.1:c.983C>T	ENSP00000514527.1:p.Ser328Phe
ENST00000699698.1:n.904C>T
ENST00000699699.1:n.1307C>T
ENST00000699700.1:n.1430C>T
ENST00000699701.1:c.*363C>T	ENSP00000514528.1:n.*363C>T
ENST00000267415.12:c.983C>T MANE Select	ENSP00000267415.7:p.Ser328Phe
ENST00000646753.1:c.878C>T	ENSP00000494065.1:p.Ser293Phe
ENST00000267415.11:c.983C>T	ENSP00000267415.7:p.Ser328Phe
ENST00000399423.8:c.983C>T	ENSP00000382350.4:p.Ser328Phe
ENST00000557915.1:n.102C>T
ENST00000558566.1:c.*355C>T	ENSP00000453025.1:n.*355C>T
ENST00000559019.1:c.*355C>T	ENSP00000453675.1:n.*355C>T
ENST00000559969.5:c.758-17C>T
ENST00000626689.2:c.*355C>T	ENSP00000486681.1:n.*355C>T
NM_001099274.1:c.983C>T	NP_001092744.1:p.Ser328Phe
NM_012461.2:c.983C>T	NP_036593.2:p.Ser328Phe
XM_005267528.2:c.983C>T	XP_005267585.1:p.Ser328Phe
XM_005267529.2:c.878C>T	XP_005267586.1:p.Ser293Phe
NM_001099274.2:c.983C>T	NP_001092744.1:p.Ser328Phe
NM_001363668.1:c.878C>T	NP_001350597.1:p.Ser293Phe
NM_012461.3:c.983C>T	NP_036593.2:p.Ser328Phe
XM_011536642.2:c.*363C>T	XP_011534944.1:n.*363C>T
XM_017021216.2:c.341C>T	XP_016876705.1:p.Ser114Phe
XM_017021217.1:c.341C>T	XP_016876706.1:p.Ser114Phe
NM_001099274.3:c.983C>T MANE Select	NP_001092744.1:p.Ser328Phe
NM_001363668.2:c.878C>T	NP_001350597.1:p.Ser293Phe