Canonical Allele Identifier: CA389222687

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709493A>T (hg19) ; chr14:g.24240287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240287A>T , CM000676.2:g.24240287A>T	GRCh38
NC_000014.8:g.24709493A>T , CM000676.1:g.24709493A>T	GRCh37
NC_000014.7:g.23779333A>T	NCBI36
NG_016650.1:g.7388T>A
NG_054634.1:g.12871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1496T>A
ENST00000557921.3:c.*128T>A	ENSP00000453157.3:n.*128T>A
ENST00000699682.1:n.1583T>A
ENST00000699683.1:n.1633T>A
ENST00000699684.1:c.*786T>A	ENSP00000514523.1:n.*786T>A
ENST00000699685.1:n.1397T>A
ENST00000699686.1:c.*128T>A	ENSP00000514524.1:n.*128T>A
ENST00000699687.1:c.*128T>A	ENSP00000514525.1:n.*128T>A
ENST00000699688.1:n.1393T>A
ENST00000699689.1:n.1749T>A
ENST00000699690.1:n.1946T>A
ENST00000699691.1:n.2090T>A
ENST00000699692.1:n.44T>A
ENST00000699693.1:n.1522T>A
ENST00000699694.1:n.1852T>A
ENST00000699695.1:c.*477T>A	ENSP00000514526.1:n.*477T>A
ENST00000699696.1:n.1496T>A
ENST00000699697.1:c.1105T>A	ENSP00000514527.1:p.Leu369Ile
ENST00000699698.1:n.1026T>A
ENST00000699699.1:n.1517T>A
ENST00000699700.1:n.1640T>A
ENST00000699701.1:c.*573T>A	ENSP00000514528.1:n.*573T>A
ENST00000267415.12:c.1105T>A MANE Select	ENSP00000267415.7:p.Leu369Ile
ENST00000646753.1:c.1000T>A	ENSP00000494065.1:p.Leu334Ile
ENST00000267415.11:c.1105T>A	ENSP00000267415.7:p.Leu369Ile
ENST00000399423.8:c.*128T>A	ENSP00000382350.4:n.*128T>A
ENST00000557915.1:n.312T>A
ENST00000558566.1:c.*565T>A	ENSP00000453025.1:n.*565T>A
ENST00000559969.5:c.951T>A
ENST00000560019.5:c.100T>A	ENSP00000453113.1:p.Leu34Ile
ENST00000626689.2:c.*477T>A	ENSP00000486681.1:n.*477T>A
NM_001099274.1:c.1105T>A	NP_001092744.1:p.Leu369Ile
NM_012461.2:c.*128T>A	NP_036593.2:n.*128T>A
XM_005267528.2:c.1105T>A	XP_005267585.1:p.Leu369Ile
XM_005267529.2:c.1000T>A	XP_005267586.1:p.Leu334Ile
NM_001099274.2:c.1105T>A	NP_001092744.1:p.Leu369Ile
NM_001363668.1:c.1000T>A	NP_001350597.1:p.Leu334Ile
NM_012461.3:c.*128T>A	NP_036593.2:n.*128T>A
XM_011536642.2:c.*573T>A	XP_011534944.1:n.*573T>A
XM_017021216.2:c.463T>A	XP_016876705.1:p.Leu155Ile
XM_017021217.1:c.463T>A	XP_016876706.1:p.Leu155Ile
NM_001099274.3:c.1105T>A MANE Select	NP_001092744.1:p.Leu369Ile
NM_001363668.2:c.1000T>A	NP_001350597.1:p.Leu334Ile