Canonical Allele Identifier: CA389224346

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709739A>G (hg19) ; chr14:g.24240533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240533A>G , CM000676.2:g.24240533A>G	GRCh38
NC_000014.8:g.24709739A>G , CM000676.1:g.24709739A>G	GRCh37
NC_000014.7:g.23779579A>G	NCBI36
NG_016650.1:g.7142T>C
NG_054634.1:g.13117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1250T>C
ENST00000557921.3:c.839T>C	ENSP00000453157.3:p.Leu280Pro
ENST00000699682.1:n.1337T>C
ENST00000699683.1:n.1387T>C
ENST00000699684.1:c.*540T>C	ENSP00000514523.1:n.*540T>C
ENST00000699685.1:n.1151T>C
ENST00000699686.1:c.740T>C	ENSP00000514524.1:p.Leu247Pro
ENST00000699687.1:c.842T>C	ENSP00000514525.1:p.Leu281Pro
ENST00000699688.1:n.1147T>C
ENST00000699689.1:n.1503T>C
ENST00000699690.1:n.1700T>C
ENST00000699691.1:n.1844T>C
ENST00000699693.1:n.1364T>C
ENST00000699694.1:n.1606T>C
ENST00000699695.1:c.*319T>C	ENSP00000514526.1:n.*319T>C
ENST00000699696.1:n.1250T>C
ENST00000699697.1:c.947T>C	ENSP00000514527.1:p.Leu316Pro
ENST00000699698.1:n.868T>C
ENST00000699699.1:n.1271T>C
ENST00000699700.1:n.1394T>C
ENST00000699701.1:c.*327T>C	ENSP00000514528.1:n.*327T>C
ENST00000267415.12:c.947T>C MANE Select	ENSP00000267415.7:p.Leu316Pro
ENST00000557921.2:c.839T>C	ENSP00000453157.2:p.Leu280Pro
ENST00000646753.1:c.842T>C	ENSP00000494065.1:p.Leu281Pro
ENST00000267415.11:c.947T>C	ENSP00000267415.7:p.Leu316Pro
ENST00000399423.8:c.947T>C	ENSP00000382350.4:p.Leu316Pro
ENST00000557915.1:n.66T>C
ENST00000558566.1:c.*319T>C	ENSP00000453025.1:n.*319T>C
ENST00000559019.1:c.*319T>C	ENSP00000453675.1:n.*319T>C
ENST00000559969.5:c.758-53T>C
ENST00000626689.2:c.*319T>C	ENSP00000486681.1:n.*319T>C
NM_001099274.1:c.947T>C	NP_001092744.1:p.Leu316Pro
NM_012461.2:c.947T>C	NP_036593.2:p.Leu316Pro
XM_005267528.2:c.947T>C	XP_005267585.1:p.Leu316Pro
XM_005267529.2:c.842T>C	XP_005267586.1:p.Leu281Pro
NM_001099274.2:c.947T>C	NP_001092744.1:p.Leu316Pro
NM_001363668.1:c.842T>C	NP_001350597.1:p.Leu281Pro
NM_012461.3:c.947T>C	NP_036593.2:p.Leu316Pro
XM_011536642.2:c.*327T>C	XP_011534944.1:n.*327T>C
XM_017021216.2:c.305T>C	XP_016876705.1:p.Leu102Pro
XM_017021217.1:c.305T>C	XP_016876706.1:p.Leu102Pro
NM_001099274.3:c.947T>C MANE Select	NP_001092744.1:p.Leu316Pro
NM_001363668.2:c.842T>C	NP_001350597.1:p.Leu281Pro