Canonical Allele Identifier: CA389225870

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709865G>A (hg19) ; chr14:g.24240659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240659G>A , CM000676.2:g.24240659G>A	GRCh38
NC_000014.8:g.24709865G>A , CM000676.1:g.24709865G>A	GRCh37
NC_000014.7:g.23779705G>A	NCBI36
NG_016650.1:g.7016C>T
NG_054634.1:g.13243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1124C>T
ENST00000557921.3:c.713C>T	ENSP00000453157.3:p.Ser238Phe
ENST00000699682.1:n.1211C>T
ENST00000699683.1:n.1261C>T
ENST00000699684.1:c.*414C>T	ENSP00000514523.1:n.*414C>T
ENST00000699685.1:n.1025C>T
ENST00000699686.1:c.614C>T	ENSP00000514524.1:p.Ser205Phe
ENST00000699687.1:c.716C>T	ENSP00000514525.1:p.Ser239Phe
ENST00000699688.1:n.1021C>T
ENST00000699689.1:n.1377C>T
ENST00000699690.1:n.1574C>T
ENST00000699691.1:n.1718C>T
ENST00000699693.1:n.1238C>T
ENST00000699694.1:n.1480C>T
ENST00000699695.1:c.*193C>T	ENSP00000514526.1:n.*193C>T
ENST00000699696.1:n.1124C>T
ENST00000699697.1:c.821C>T	ENSP00000514527.1:p.Ser274Phe
ENST00000699698.1:n.742C>T
ENST00000699699.1:n.1145C>T
ENST00000699700.1:n.1268C>T
ENST00000699701.1:c.*201C>T	ENSP00000514528.1:n.*201C>T
ENST00000267415.12:c.821C>T MANE Select	ENSP00000267415.7:p.Ser274Phe
ENST00000557921.2:c.713C>T	ENSP00000453157.2:p.Ser238Phe
ENST00000646753.1:c.716C>T	ENSP00000494065.1:p.Ser239Phe
ENST00000267415.11:c.821C>T	ENSP00000267415.7:p.Ser274Phe
ENST00000399423.8:c.821C>T	ENSP00000382350.4:p.Ser274Phe
ENST00000558476.5:c.383C>T	ENSP00000452724.1:p.Ser128Phe
ENST00000558566.1:c.*193C>T	ENSP00000453025.1:n.*193C>T
ENST00000559019.1:c.*193C>T	ENSP00000453675.1:n.*193C>T
ENST00000559549.1:n.547C>T
ENST00000559969.5:c.757+20C>T
ENST00000626689.2:c.*193C>T	ENSP00000486681.1:n.*193C>T
NM_001099274.1:c.821C>T	NP_001092744.1:p.Ser274Phe
NM_012461.2:c.821C>T	NP_036593.2:p.Ser274Phe
XM_005267528.2:c.821C>T	XP_005267585.1:p.Ser274Phe
XM_005267529.2:c.716C>T	XP_005267586.1:p.Ser239Phe
NM_001099274.2:c.821C>T	NP_001092744.1:p.Ser274Phe
NM_001363668.1:c.716C>T	NP_001350597.1:p.Ser239Phe
NM_012461.3:c.821C>T	NP_036593.2:p.Ser274Phe
XM_011536642.2:c.*201C>T	XP_011534944.1:n.*201C>T
XM_017021216.2:c.179C>T	XP_016876705.1:p.Ser60Phe
XM_017021217.1:c.179C>T	XP_016876706.1:p.Ser60Phe
NM_001099274.3:c.821C>T MANE Select	NP_001092744.1:p.Ser274Phe
NM_001363668.2:c.716C>T	NP_001350597.1:p.Ser239Phe