Canonical Allele Identifier: CA389223804

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709685G>A (hg19) ; chr14:g.24240479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240479G>A , CM000676.2:g.24240479G>A	GRCh38
NC_000014.8:g.24709685G>A , CM000676.1:g.24709685G>A	GRCh37
NC_000014.7:g.23779525G>A	NCBI36
NG_016650.1:g.7196C>T
NG_054634.1:g.13063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1304C>T
ENST00000557921.3:c.893C>T	ENSP00000453157.3:p.Thr298Ile
ENST00000699682.1:n.1391C>T
ENST00000699683.1:n.1441C>T
ENST00000699684.1:c.*594C>T	ENSP00000514523.1:n.*594C>T
ENST00000699685.1:n.1205C>T
ENST00000699686.1:c.794C>T	ENSP00000514524.1:p.Thr265Ile
ENST00000699687.1:c.896C>T	ENSP00000514525.1:p.Thr299Ile
ENST00000699688.1:n.1201C>T
ENST00000699689.1:n.1557C>T
ENST00000699690.1:n.1754C>T
ENST00000699691.1:n.1898C>T
ENST00000699693.1:n.1418C>T
ENST00000699694.1:n.1660C>T
ENST00000699695.1:c.*373C>T	ENSP00000514526.1:n.*373C>T
ENST00000699696.1:n.1304C>T
ENST00000699697.1:c.1001C>T	ENSP00000514527.1:p.Thr334Ile
ENST00000699698.1:n.922C>T
ENST00000699699.1:n.1325C>T
ENST00000699700.1:n.1448C>T
ENST00000699701.1:c.*381C>T	ENSP00000514528.1:n.*381C>T
ENST00000267415.12:c.1001C>T MANE Select	ENSP00000267415.7:p.Thr334Ile
ENST00000646753.1:c.896C>T	ENSP00000494065.1:p.Thr299Ile
ENST00000267415.11:c.1001C>T	ENSP00000267415.7:p.Thr334Ile
ENST00000399423.8:c.1001C>T	ENSP00000382350.4:p.Thr334Ile
ENST00000557915.1:n.120C>T
ENST00000558566.1:c.*373C>T	ENSP00000453025.1:n.*373C>T
ENST00000559969.5:c.759C>T
ENST00000626689.2:c.*373C>T	ENSP00000486681.1:n.*373C>T
NM_001099274.1:c.1001C>T	NP_001092744.1:p.Thr334Ile
NM_012461.2:c.1001C>T	NP_036593.2:p.Thr334Ile
XM_005267528.2:c.1001C>T	XP_005267585.1:p.Thr334Ile
XM_005267529.2:c.896C>T	XP_005267586.1:p.Thr299Ile
NM_001099274.2:c.1001C>T	NP_001092744.1:p.Thr334Ile
NM_001363668.1:c.896C>T	NP_001350597.1:p.Thr299Ile
NM_012461.3:c.1001C>T	NP_036593.2:p.Thr334Ile
XM_011536642.2:c.*381C>T	XP_011534944.1:n.*381C>T
XM_017021216.2:c.359C>T	XP_016876705.1:p.Thr120Ile
XM_017021217.1:c.359C>T	XP_016876706.1:p.Thr120Ile
NM_001099274.3:c.1001C>T MANE Select	NP_001092744.1:p.Thr334Ile
NM_001363668.2:c.896C>T	NP_001350597.1:p.Thr299Ile