Canonical Allele Identifier: CA389224328

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709737C>T (hg19) ; chr14:g.24240531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240531C>T , CM000676.2:g.24240531C>T	GRCh38
NC_000014.8:g.24709737C>T , CM000676.1:g.24709737C>T	GRCh37
NC_000014.7:g.23779577C>T	NCBI36
NG_016650.1:g.7144G>A
NG_054634.1:g.13115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1252G>A
ENST00000557921.3:c.841G>A	ENSP00000453157.3:p.Ala281Thr
ENST00000699682.1:n.1339G>A
ENST00000699683.1:n.1389G>A
ENST00000699684.1:c.*542G>A	ENSP00000514523.1:n.*542G>A
ENST00000699685.1:n.1153G>A
ENST00000699686.1:c.742G>A	ENSP00000514524.1:p.Ala248Thr
ENST00000699687.1:c.844G>A	ENSP00000514525.1:p.Ala282Thr
ENST00000699688.1:n.1149G>A
ENST00000699689.1:n.1505G>A
ENST00000699690.1:n.1702G>A
ENST00000699691.1:n.1846G>A
ENST00000699693.1:n.1366G>A
ENST00000699694.1:n.1608G>A
ENST00000699695.1:c.*321G>A	ENSP00000514526.1:n.*321G>A
ENST00000699696.1:n.1252G>A
ENST00000699697.1:c.949G>A	ENSP00000514527.1:p.Ala317Thr
ENST00000699698.1:n.870G>A
ENST00000699699.1:n.1273G>A
ENST00000699700.1:n.1396G>A
ENST00000699701.1:c.*329G>A	ENSP00000514528.1:n.*329G>A
ENST00000267415.12:c.949G>A MANE Select	ENSP00000267415.7:p.Ala317Thr
ENST00000557921.2:c.841G>A	ENSP00000453157.2:p.Ala281Thr
ENST00000646753.1:c.844G>A	ENSP00000494065.1:p.Ala282Thr
ENST00000267415.11:c.949G>A	ENSP00000267415.7:p.Ala317Thr
ENST00000399423.8:c.949G>A	ENSP00000382350.4:p.Ala317Thr
ENST00000557915.1:n.68G>A
ENST00000558566.1:c.*321G>A	ENSP00000453025.1:n.*321G>A
ENST00000559019.1:c.*321G>A	ENSP00000453675.1:n.*321G>A
ENST00000559969.5:c.758-51G>A
ENST00000626689.2:c.*321G>A	ENSP00000486681.1:n.*321G>A
NM_001099274.1:c.949G>A	NP_001092744.1:p.Ala317Thr
NM_012461.2:c.949G>A	NP_036593.2:p.Ala317Thr
XM_005267528.2:c.949G>A	XP_005267585.1:p.Ala317Thr
XM_005267529.2:c.844G>A	XP_005267586.1:p.Ala282Thr
NM_001099274.2:c.949G>A	NP_001092744.1:p.Ala317Thr
NM_001363668.1:c.844G>A	NP_001350597.1:p.Ala282Thr
NM_012461.3:c.949G>A	NP_036593.2:p.Ala317Thr
XM_011536642.2:c.*329G>A	XP_011534944.1:n.*329G>A
XM_017021216.2:c.307G>A	XP_016876705.1:p.Ala103Thr
XM_017021217.1:c.307G>A	XP_016876706.1:p.Ala103Thr
NM_001099274.3:c.949G>A MANE Select	NP_001092744.1:p.Ala317Thr
NM_001363668.2:c.844G>A	NP_001350597.1:p.Ala282Thr