Canonical Allele Identifier: CA389226931

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709958C>G (hg19) ; chr14:g.24240752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240752C>G , CM000676.2:g.24240752C>G	GRCh38
NC_000014.8:g.24709958C>G , CM000676.1:g.24709958C>G	GRCh37
NC_000014.7:g.23779798C>G	NCBI36
NG_016650.1:g.6923G>C
NG_054634.1:g.13336C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1031G>C
ENST00000557921.3:c.620G>C	ENSP00000453157.3:p.Gly207Ala
ENST00000699682.1:n.1118G>C
ENST00000699683.1:n.1168G>C
ENST00000699684.1:c.*321G>C	ENSP00000514523.1:n.*321G>C
ENST00000699685.1:n.932G>C
ENST00000699686.1:c.521G>C	ENSP00000514524.1:p.Gly174Ala
ENST00000699687.1:c.623G>C	ENSP00000514525.1:p.Gly208Ala
ENST00000699688.1:n.928G>C
ENST00000699689.1:n.1284G>C
ENST00000699690.1:n.1481G>C
ENST00000699691.1:n.1625G>C
ENST00000699693.1:n.1145G>C
ENST00000699694.1:n.1387G>C
ENST00000699695.1:c.*100G>C	ENSP00000514526.1:n.*100G>C
ENST00000699696.1:n.1031G>C
ENST00000699697.1:c.728G>C	ENSP00000514527.1:p.Gly243Ala
ENST00000699698.1:n.649G>C
ENST00000699699.1:n.1052G>C
ENST00000699700.1:n.1175G>C
ENST00000699701.1:c.*108G>C	ENSP00000514528.1:n.*108G>C
ENST00000267415.12:c.728G>C MANE Select	ENSP00000267415.7:p.Gly243Ala
ENST00000557921.2:c.620G>C	ENSP00000453157.2:p.Gly207Ala
ENST00000646753.1:c.623G>C	ENSP00000494065.1:p.Gly208Ala
ENST00000267415.11:c.728G>C	ENSP00000267415.7:p.Gly243Ala
ENST00000399423.8:c.728G>C	ENSP00000382350.4:p.Gly243Ala
ENST00000558476.5:c.290G>C	ENSP00000452724.1:p.Gly97Ala
ENST00000558566.1:c.*100G>C	ENSP00000453025.1:n.*100G>C
ENST00000559019.1:c.*100G>C	ENSP00000453675.1:n.*100G>C
ENST00000559549.1:n.454G>C
ENST00000559969.5:c.684G>C
ENST00000626689.2:c.*100G>C	ENSP00000486681.1:n.*100G>C
NM_001099274.1:c.728G>C	NP_001092744.1:p.Gly243Ala
NM_012461.2:c.728G>C	NP_036593.2:p.Gly243Ala
XM_005267528.2:c.728G>C	XP_005267585.1:p.Gly243Ala
XM_005267529.2:c.623G>C	XP_005267586.1:p.Gly208Ala
NM_001099274.2:c.728G>C	NP_001092744.1:p.Gly243Ala
NM_001363668.1:c.623G>C	NP_001350597.1:p.Gly208Ala
NM_012461.3:c.728G>C	NP_036593.2:p.Gly243Ala
XM_011536642.2:c.*108G>C	XP_011534944.1:n.*108G>C
XM_017021216.2:c.86G>C	XP_016876705.1:p.Gly29Ala
XM_017021217.1:c.86G>C	XP_016876706.1:p.Gly29Ala
NM_001099274.3:c.728G>C MANE Select	NP_001092744.1:p.Gly243Ala
NM_001363668.2:c.623G>C	NP_001350597.1:p.Gly208Ala