Canonical Allele Identifier: CA389224400

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709746C>T (hg19) ; chr14:g.24240540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240540C>T , CM000676.2:g.24240540C>T	GRCh38
NC_000014.8:g.24709746C>T , CM000676.1:g.24709746C>T	GRCh37
NC_000014.7:g.23779586C>T	NCBI36
NG_016650.1:g.7135G>A
NG_054634.1:g.13124C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1243G>A
ENST00000557921.3:c.832G>A	ENSP00000453157.3:p.Ala278Thr
ENST00000699682.1:n.1330G>A
ENST00000699683.1:n.1380G>A
ENST00000699684.1:c.*533G>A	ENSP00000514523.1:n.*533G>A
ENST00000699685.1:n.1144G>A
ENST00000699686.1:c.733G>A	ENSP00000514524.1:p.Ala245Thr
ENST00000699687.1:c.835G>A	ENSP00000514525.1:p.Ala279Thr
ENST00000699688.1:n.1140G>A
ENST00000699689.1:n.1496G>A
ENST00000699690.1:n.1693G>A
ENST00000699691.1:n.1837G>A
ENST00000699693.1:n.1357G>A
ENST00000699694.1:n.1599G>A
ENST00000699695.1:c.*312G>A	ENSP00000514526.1:n.*312G>A
ENST00000699696.1:n.1243G>A
ENST00000699697.1:c.940G>A	ENSP00000514527.1:p.Ala314Thr
ENST00000699698.1:n.861G>A
ENST00000699699.1:n.1264G>A
ENST00000699700.1:n.1387G>A
ENST00000699701.1:c.*320G>A	ENSP00000514528.1:n.*320G>A
ENST00000267415.12:c.940G>A MANE Select	ENSP00000267415.7:p.Ala314Thr
ENST00000557921.2:c.832G>A	ENSP00000453157.2:p.Ala278Thr
ENST00000646753.1:c.835G>A	ENSP00000494065.1:p.Ala279Thr
ENST00000267415.11:c.940G>A	ENSP00000267415.7:p.Ala314Thr
ENST00000399423.8:c.940G>A	ENSP00000382350.4:p.Ala314Thr
ENST00000557915.1:n.59G>A
ENST00000558566.1:c.*312G>A	ENSP00000453025.1:n.*312G>A
ENST00000559019.1:c.*312G>A	ENSP00000453675.1:n.*312G>A
ENST00000559969.5:c.758-60G>A
ENST00000626689.2:c.*312G>A	ENSP00000486681.1:n.*312G>A
NM_001099274.1:c.940G>A	NP_001092744.1:p.Ala314Thr
NM_012461.2:c.940G>A	NP_036593.2:p.Ala314Thr
XM_005267528.2:c.940G>A	XP_005267585.1:p.Ala314Thr
XM_005267529.2:c.835G>A	XP_005267586.1:p.Ala279Thr
NM_001099274.2:c.940G>A	NP_001092744.1:p.Ala314Thr
NM_001363668.1:c.835G>A	NP_001350597.1:p.Ala279Thr
NM_012461.3:c.940G>A	NP_036593.2:p.Ala314Thr
XM_011536642.2:c.*320G>A	XP_011534944.1:n.*320G>A
XM_017021216.2:c.298G>A	XP_016876705.1:p.Ala100Thr
XM_017021217.1:c.298G>A	XP_016876706.1:p.Ala100Thr
NM_001099274.3:c.940G>A MANE Select	NP_001092744.1:p.Ala314Thr
NM_001363668.2:c.835G>A	NP_001350597.1:p.Ala279Thr