Canonical Allele Identifier: CA389224119

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709716A>G (hg19) ; chr14:g.24240510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240510A>G , CM000676.2:g.24240510A>G	GRCh38
NC_000014.8:g.24709716A>G , CM000676.1:g.24709716A>G	GRCh37
NC_000014.7:g.23779556A>G	NCBI36
NG_016650.1:g.7165T>C
NG_054634.1:g.13094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1273T>C
ENST00000557921.3:c.862T>C	ENSP00000453157.3:p.Ser288Pro
ENST00000699682.1:n.1360T>C
ENST00000699683.1:n.1410T>C
ENST00000699684.1:c.*563T>C	ENSP00000514523.1:n.*563T>C
ENST00000699685.1:n.1174T>C
ENST00000699686.1:c.763T>C	ENSP00000514524.1:p.Ser255Pro
ENST00000699687.1:c.865T>C	ENSP00000514525.1:p.Ser289Pro
ENST00000699688.1:n.1170T>C
ENST00000699689.1:n.1526T>C
ENST00000699690.1:n.1723T>C
ENST00000699691.1:n.1867T>C
ENST00000699693.1:n.1387T>C
ENST00000699694.1:n.1629T>C
ENST00000699695.1:c.*342T>C	ENSP00000514526.1:n.*342T>C
ENST00000699696.1:n.1273T>C
ENST00000699697.1:c.970T>C	ENSP00000514527.1:p.Ser324Pro
ENST00000699698.1:n.891T>C
ENST00000699699.1:n.1294T>C
ENST00000699700.1:n.1417T>C
ENST00000699701.1:c.*350T>C	ENSP00000514528.1:n.*350T>C
ENST00000267415.12:c.970T>C MANE Select	ENSP00000267415.7:p.Ser324Pro
ENST00000557921.2:c.862T>C	ENSP00000453157.2:p.Ser288Pro
ENST00000646753.1:c.865T>C	ENSP00000494065.1:p.Ser289Pro
ENST00000267415.11:c.970T>C	ENSP00000267415.7:p.Ser324Pro
ENST00000399423.8:c.970T>C	ENSP00000382350.4:p.Ser324Pro
ENST00000557915.1:n.89T>C
ENST00000558566.1:c.*342T>C	ENSP00000453025.1:n.*342T>C
ENST00000559019.1:c.*342T>C	ENSP00000453675.1:n.*342T>C
ENST00000559969.5:c.758-30T>C
ENST00000626689.2:c.*342T>C	ENSP00000486681.1:n.*342T>C
NM_001099274.1:c.970T>C	NP_001092744.1:p.Ser324Pro
NM_012461.2:c.970T>C	NP_036593.2:p.Ser324Pro
XM_005267528.2:c.970T>C	XP_005267585.1:p.Ser324Pro
XM_005267529.2:c.865T>C	XP_005267586.1:p.Ser289Pro
NM_001099274.2:c.970T>C	NP_001092744.1:p.Ser324Pro
NM_001363668.1:c.865T>C	NP_001350597.1:p.Ser289Pro
NM_012461.3:c.970T>C	NP_036593.2:p.Ser324Pro
XM_011536642.2:c.*350T>C	XP_011534944.1:n.*350T>C
XM_017021216.2:c.328T>C	XP_016876705.1:p.Ser110Pro
XM_017021217.1:c.328T>C	XP_016876706.1:p.Ser110Pro
NM_001099274.3:c.970T>C MANE Select	NP_001092744.1:p.Ser324Pro
NM_001363668.2:c.865T>C	NP_001350597.1:p.Ser289Pro