Canonical Allele Identifier: CA389224950

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709784G>T (hg19) ; chr14:g.24240578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240578G>T , CM000676.2:g.24240578G>T	GRCh38
NC_000014.8:g.24709784G>T , CM000676.1:g.24709784G>T	GRCh37
NC_000014.7:g.23779624G>T	NCBI36
NG_016650.1:g.7097C>A
NG_054634.1:g.13162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1205C>A
ENST00000557921.3:c.794C>A	ENSP00000453157.3:p.Ser265Tyr
ENST00000699682.1:n.1292C>A
ENST00000699683.1:n.1342C>A
ENST00000699684.1:c.*495C>A	ENSP00000514523.1:n.*495C>A
ENST00000699685.1:n.1106C>A
ENST00000699686.1:c.695C>A	ENSP00000514524.1:p.Ser232Tyr
ENST00000699687.1:c.797C>A	ENSP00000514525.1:p.Ser266Tyr
ENST00000699688.1:n.1102C>A
ENST00000699689.1:n.1458C>A
ENST00000699690.1:n.1655C>A
ENST00000699691.1:n.1799C>A
ENST00000699693.1:n.1319C>A
ENST00000699694.1:n.1561C>A
ENST00000699695.1:c.*274C>A	ENSP00000514526.1:n.*274C>A
ENST00000699696.1:n.1205C>A
ENST00000699697.1:c.902C>A	ENSP00000514527.1:p.Ser301Tyr
ENST00000699698.1:n.823C>A
ENST00000699699.1:n.1226C>A
ENST00000699700.1:n.1349C>A
ENST00000699701.1:c.*282C>A	ENSP00000514528.1:n.*282C>A
ENST00000267415.12:c.902C>A MANE Select	ENSP00000267415.7:p.Ser301Tyr
ENST00000557921.2:c.794C>A	ENSP00000453157.2:p.Ser265Tyr
ENST00000646753.1:c.797C>A	ENSP00000494065.1:p.Ser266Tyr
ENST00000267415.11:c.902C>A	ENSP00000267415.7:p.Ser301Tyr
ENST00000399423.8:c.902C>A	ENSP00000382350.4:p.Ser301Tyr
ENST00000557915.1:n.21C>A
ENST00000558566.1:c.*274C>A	ENSP00000453025.1:n.*274C>A
ENST00000559019.1:c.*274C>A	ENSP00000453675.1:n.*274C>A
ENST00000559969.5:c.758-98C>A
ENST00000626689.2:c.*274C>A	ENSP00000486681.1:n.*274C>A
NM_001099274.1:c.902C>A	NP_001092744.1:p.Ser301Tyr
NM_012461.2:c.902C>A	NP_036593.2:p.Ser301Tyr
XM_005267528.2:c.902C>A	XP_005267585.1:p.Ser301Tyr
XM_005267529.2:c.797C>A	XP_005267586.1:p.Ser266Tyr
NM_001099274.2:c.902C>A	NP_001092744.1:p.Ser301Tyr
NM_001363668.1:c.797C>A	NP_001350597.1:p.Ser266Tyr
NM_012461.3:c.902C>A	NP_036593.2:p.Ser301Tyr
XM_011536642.2:c.*282C>A	XP_011534944.1:n.*282C>A
XM_017021216.2:c.260C>A	XP_016876705.1:p.Ser87Tyr
XM_017021217.1:c.260C>A	XP_016876706.1:p.Ser87Tyr
NM_001099274.3:c.902C>A MANE Select	NP_001092744.1:p.Ser301Tyr
NM_001363668.2:c.797C>A	NP_001350597.1:p.Ser266Tyr