Canonical Allele Identifier: CA389223847

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709689G>C (hg19) ; chr14:g.24240483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240483G>C , CM000676.2:g.24240483G>C	GRCh38
NC_000014.8:g.24709689G>C , CM000676.1:g.24709689G>C	GRCh37
NC_000014.7:g.23779529G>C	NCBI36
NG_016650.1:g.7192C>G
NG_054634.1:g.13067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1300C>G
ENST00000557921.3:c.889C>G	ENSP00000453157.3:p.Gln297Glu
ENST00000699682.1:n.1387C>G
ENST00000699683.1:n.1437C>G
ENST00000699684.1:c.*590C>G	ENSP00000514523.1:n.*590C>G
ENST00000699685.1:n.1201C>G
ENST00000699686.1:c.790C>G	ENSP00000514524.1:p.Gln264Glu
ENST00000699687.1:c.892C>G	ENSP00000514525.1:p.Gln298Glu
ENST00000699688.1:n.1197C>G
ENST00000699689.1:n.1553C>G
ENST00000699690.1:n.1750C>G
ENST00000699691.1:n.1894C>G
ENST00000699693.1:n.1414C>G
ENST00000699694.1:n.1656C>G
ENST00000699695.1:c.*369C>G	ENSP00000514526.1:n.*369C>G
ENST00000699696.1:n.1300C>G
ENST00000699697.1:c.997C>G	ENSP00000514527.1:p.Gln333Glu
ENST00000699698.1:n.918C>G
ENST00000699699.1:n.1321C>G
ENST00000699700.1:n.1444C>G
ENST00000699701.1:c.*377C>G	ENSP00000514528.1:n.*377C>G
ENST00000267415.12:c.997C>G MANE Select	ENSP00000267415.7:p.Gln333Glu
ENST00000646753.1:c.892C>G	ENSP00000494065.1:p.Gln298Glu
ENST00000267415.11:c.997C>G	ENSP00000267415.7:p.Gln333Glu
ENST00000399423.8:c.997C>G	ENSP00000382350.4:p.Gln333Glu
ENST00000557915.1:n.116C>G
ENST00000558566.1:c.*369C>G	ENSP00000453025.1:n.*369C>G
ENST00000559019.1:c.*369C>G	ENSP00000453675.1:n.*369C>G
ENST00000559969.5:c.758-3C>G
ENST00000626689.2:c.*369C>G	ENSP00000486681.1:n.*369C>G
NM_001099274.1:c.997C>G	NP_001092744.1:p.Gln333Glu
NM_012461.2:c.997C>G	NP_036593.2:p.Gln333Glu
XM_005267528.2:c.997C>G	XP_005267585.1:p.Gln333Glu
XM_005267529.2:c.892C>G	XP_005267586.1:p.Gln298Glu
NM_001099274.2:c.997C>G	NP_001092744.1:p.Gln333Glu
NM_001363668.1:c.892C>G	NP_001350597.1:p.Gln298Glu
NM_012461.3:c.997C>G	NP_036593.2:p.Gln333Glu
XM_011536642.2:c.*377C>G	XP_011534944.1:n.*377C>G
XM_017021216.2:c.355C>G	XP_016876705.1:p.Gln119Glu
XM_017021217.1:c.355C>G	XP_016876706.1:p.Gln119Glu
NM_001099274.3:c.997C>G MANE Select	NP_001092744.1:p.Gln333Glu
NM_001363668.2:c.892C>G	NP_001350597.1:p.Gln298Glu