Canonical Allele Identifier: CA389224060

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709707T>A (hg19) ; chr14:g.24240501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240501T>A , CM000676.2:g.24240501T>A	GRCh38
NC_000014.8:g.24709707T>A , CM000676.1:g.24709707T>A	GRCh37
NC_000014.7:g.23779547T>A	NCBI36
NG_016650.1:g.7174A>T
NG_054634.1:g.13085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1282A>T
ENST00000557921.3:c.871A>T	ENSP00000453157.3:p.Lys291Ter
ENST00000699682.1:n.1369A>T
ENST00000699683.1:n.1419A>T
ENST00000699684.1:c.*572A>T	ENSP00000514523.1:n.*572A>T
ENST00000699685.1:n.1183A>T
ENST00000699686.1:c.772A>T	ENSP00000514524.1:p.Lys258Ter
ENST00000699687.1:c.874A>T	ENSP00000514525.1:p.Lys292Ter
ENST00000699688.1:n.1179A>T
ENST00000699689.1:n.1535A>T
ENST00000699690.1:n.1732A>T
ENST00000699691.1:n.1876A>T
ENST00000699693.1:n.1396A>T
ENST00000699694.1:n.1638A>T
ENST00000699695.1:c.*351A>T	ENSP00000514526.1:n.*351A>T
ENST00000699696.1:n.1282A>T
ENST00000699697.1:c.979A>T	ENSP00000514527.1:p.Lys327Ter
ENST00000699698.1:n.900A>T
ENST00000699699.1:n.1303A>T
ENST00000699700.1:n.1426A>T
ENST00000699701.1:c.*359A>T	ENSP00000514528.1:n.*359A>T
ENST00000267415.12:c.979A>T MANE Select	ENSP00000267415.7:p.Lys327Ter
ENST00000557921.2:c.871A>T
ENST00000646753.1:c.874A>T	ENSP00000494065.1:p.Lys292Ter
ENST00000267415.11:c.979A>T	ENSP00000267415.7:p.Lys327Ter
ENST00000399423.8:c.979A>T	ENSP00000382350.4:p.Lys327Ter
ENST00000557915.1:n.98A>T
ENST00000558566.1:c.*351A>T	ENSP00000453025.1:n.*351A>T
ENST00000559019.1:c.*351A>T	ENSP00000453675.1:n.*351A>T
ENST00000559969.5:c.758-21A>T
ENST00000626689.2:c.*351A>T	ENSP00000486681.1:n.*351A>T
NM_001099274.1:c.979A>T	NP_001092744.1:p.Lys327Ter
NM_012461.2:c.979A>T	NP_036593.2:p.Lys327Ter
XM_005267528.2:c.979A>T	XP_005267585.1:p.Lys327Ter
XM_005267529.2:c.874A>T	XP_005267586.1:p.Lys292Ter
NM_001099274.2:c.979A>T	NP_001092744.1:p.Lys327Ter
NM_001363668.1:c.874A>T	NP_001350597.1:p.Lys292Ter
NM_012461.3:c.979A>T	NP_036593.2:p.Lys327Ter
XM_011536642.2:c.*359A>T	XP_011534944.1:n.*359A>T
XM_017021216.2:c.337A>T	XP_016876705.1:p.Lys113Ter
XM_017021217.1:c.337A>T	XP_016876706.1:p.Lys113Ter
NM_001099274.3:c.979A>T MANE Select	NP_001092744.1:p.Lys327Ter
NM_001363668.2:c.874A>T	NP_001350597.1:p.Lys292Ter