Canonical Allele Identifier: CA389224471

Gene: TINF2

Linked Data

• ClinVar Variation Id: 3025489
• ClinVar RCV Id: RCV003884877
• MyVariant Identifiers: chr14:g.24709752A>G (hg19) ; chr14:g.24240546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240546A>G , CM000676.2:g.24240546A>G	GRCh38
NC_000014.8:g.24709752A>G , CM000676.1:g.24709752A>G	GRCh37
NC_000014.7:g.23779592A>G	NCBI36
NG_016650.1:g.7129T>C
NG_054634.1:g.13130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1237T>C
ENST00000557921.3:c.826T>C	ENSP00000453157.3:p.Tyr276His
ENST00000699682.1:n.1324T>C
ENST00000699683.1:n.1374T>C
ENST00000699684.1:c.*527T>C	ENSP00000514523.1:n.*527T>C
ENST00000699685.1:n.1138T>C
ENST00000699686.1:c.727T>C	ENSP00000514524.1:p.Tyr243His
ENST00000699687.1:c.829T>C	ENSP00000514525.1:p.Tyr277His
ENST00000699688.1:n.1134T>C
ENST00000699689.1:n.1490T>C
ENST00000699690.1:n.1687T>C
ENST00000699691.1:n.1831T>C
ENST00000699693.1:n.1351T>C
ENST00000699694.1:n.1593T>C
ENST00000699695.1:c.*306T>C	ENSP00000514526.1:n.*306T>C
ENST00000699696.1:n.1237T>C
ENST00000699697.1:c.934T>C	ENSP00000514527.1:p.Tyr312His
ENST00000699698.1:n.855T>C
ENST00000699699.1:n.1258T>C
ENST00000699700.1:n.1381T>C
ENST00000699701.1:c.*314T>C	ENSP00000514528.1:n.*314T>C
ENST00000267415.12:c.934T>C MANE Select	ENSP00000267415.7:p.Tyr312His
ENST00000557921.2:c.826T>C	ENSP00000453157.2:p.Tyr276His
ENST00000646753.1:c.829T>C	ENSP00000494065.1:p.Tyr277His
ENST00000267415.11:c.934T>C	ENSP00000267415.7:p.Tyr312His
ENST00000399423.8:c.934T>C	ENSP00000382350.4:p.Tyr312His
ENST00000557915.1:n.53T>C
ENST00000558566.1:c.*306T>C	ENSP00000453025.1:n.*306T>C
ENST00000559019.1:c.*306T>C	ENSP00000453675.1:n.*306T>C
ENST00000559969.5:c.758-66T>C
ENST00000626689.2:c.*306T>C	ENSP00000486681.1:n.*306T>C
NM_001099274.1:c.934T>C	NP_001092744.1:p.Tyr312His
NM_012461.2:c.934T>C	NP_036593.2:p.Tyr312His
XM_005267528.2:c.934T>C	XP_005267585.1:p.Tyr312His
XM_005267529.2:c.829T>C	XP_005267586.1:p.Tyr277His
NM_001099274.2:c.934T>C	NP_001092744.1:p.Tyr312His
NM_001363668.1:c.829T>C	NP_001350597.1:p.Tyr277His
NM_012461.3:c.934T>C	NP_036593.2:p.Tyr312His
XM_011536642.2:c.*314T>C	XP_011534944.1:n.*314T>C
XM_017021216.2:c.292T>C	XP_016876705.1:p.Tyr98His
XM_017021217.1:c.292T>C	XP_016876706.1:p.Tyr98His
NM_001099274.3:c.934T>C MANE Select	NP_001092744.1:p.Tyr312His
NM_001363668.2:c.829T>C	NP_001350597.1:p.Tyr277His