Canonical Allele Identifier: CA389226511

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709915G>T (hg19) ; chr14:g.24240709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240709G>T , CM000676.2:g.24240709G>T	GRCh38
NC_000014.8:g.24709915G>T , CM000676.1:g.24709915G>T	GRCh37
NC_000014.7:g.23779755G>T	NCBI36
NG_016650.1:g.6966C>A
NG_054634.1:g.13293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1074C>A
ENST00000557921.3:c.663C>A	ENSP00000453157.3:p.His221Gln
ENST00000699682.1:n.1161C>A
ENST00000699683.1:n.1211C>A
ENST00000699684.1:c.*364C>A	ENSP00000514523.1:n.*364C>A
ENST00000699685.1:n.975C>A
ENST00000699686.1:c.564C>A	ENSP00000514524.1:p.His188Gln
ENST00000699687.1:c.666C>A	ENSP00000514525.1:p.His222Gln
ENST00000699688.1:n.971C>A
ENST00000699689.1:n.1327C>A
ENST00000699690.1:n.1524C>A
ENST00000699691.1:n.1668C>A
ENST00000699693.1:n.1188C>A
ENST00000699694.1:n.1430C>A
ENST00000699695.1:c.*143C>A	ENSP00000514526.1:n.*143C>A
ENST00000699696.1:n.1074C>A
ENST00000699697.1:c.771C>A	ENSP00000514527.1:p.His257Gln
ENST00000699698.1:n.692C>A
ENST00000699699.1:n.1095C>A
ENST00000699700.1:n.1218C>A
ENST00000699701.1:c.*151C>A	ENSP00000514528.1:n.*151C>A
ENST00000267415.12:c.771C>A MANE Select	ENSP00000267415.7:p.His257Gln
ENST00000557921.2:c.663C>A	ENSP00000453157.2:p.His221Gln
ENST00000646753.1:c.666C>A	ENSP00000494065.1:p.His222Gln
ENST00000267415.11:c.771C>A	ENSP00000267415.7:p.His257Gln
ENST00000399423.8:c.771C>A	ENSP00000382350.4:p.His257Gln
ENST00000558476.5:c.333C>A	ENSP00000452724.1:p.His111Gln
ENST00000558566.1:c.*143C>A	ENSP00000453025.1:n.*143C>A
ENST00000559019.1:c.*143C>A	ENSP00000453675.1:n.*143C>A
ENST00000559549.1:n.497C>A
ENST00000559969.5:c.727C>A
ENST00000626689.2:c.*143C>A	ENSP00000486681.1:n.*143C>A
NM_001099274.1:c.771C>A	NP_001092744.1:p.His257Gln
NM_012461.2:c.771C>A	NP_036593.2:p.His257Gln
XM_005267528.2:c.771C>A	XP_005267585.1:p.His257Gln
XM_005267529.2:c.666C>A	XP_005267586.1:p.His222Gln
NM_001099274.2:c.771C>A	NP_001092744.1:p.His257Gln
NM_001363668.1:c.666C>A	NP_001350597.1:p.His222Gln
NM_012461.3:c.771C>A	NP_036593.2:p.His257Gln
XM_011536642.2:c.*151C>A	XP_011534944.1:n.*151C>A
XM_017021216.2:c.129C>A	XP_016876705.1:p.His43Gln
XM_017021217.1:c.129C>A	XP_016876706.1:p.His43Gln
NM_001099274.3:c.771C>A MANE Select	NP_001092744.1:p.His257Gln
NM_001363668.2:c.666C>A	NP_001350597.1:p.His222Gln