Canonical Allele Identifier: CA389225133

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709800G>T (hg19) ; chr14:g.24240594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240594G>T , CM000676.2:g.24240594G>T	GRCh38
NC_000014.8:g.24709800G>T , CM000676.1:g.24709800G>T	GRCh37
NC_000014.7:g.23779640G>T	NCBI36
NG_016650.1:g.7081C>A
NG_054634.1:g.13178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1189C>A
ENST00000557921.3:c.778C>A	ENSP00000453157.3:p.Pro260Thr
ENST00000699682.1:n.1276C>A
ENST00000699683.1:n.1326C>A
ENST00000699684.1:c.*479C>A	ENSP00000514523.1:n.*479C>A
ENST00000699685.1:n.1090C>A
ENST00000699686.1:c.679C>A	ENSP00000514524.1:p.Pro227Thr
ENST00000699687.1:c.781C>A	ENSP00000514525.1:p.Pro261Thr
ENST00000699688.1:n.1086C>A
ENST00000699689.1:n.1442C>A
ENST00000699690.1:n.1639C>A
ENST00000699691.1:n.1783C>A
ENST00000699693.1:n.1303C>A
ENST00000699694.1:n.1545C>A
ENST00000699695.1:c.*258C>A	ENSP00000514526.1:n.*258C>A
ENST00000699696.1:n.1189C>A
ENST00000699697.1:c.886C>A	ENSP00000514527.1:p.Pro296Thr
ENST00000699698.1:n.807C>A
ENST00000699699.1:n.1210C>A
ENST00000699700.1:n.1333C>A
ENST00000699701.1:c.*266C>A	ENSP00000514528.1:n.*266C>A
ENST00000267415.12:c.886C>A MANE Select	ENSP00000267415.7:p.Pro296Thr
ENST00000557921.2:c.778C>A	ENSP00000453157.2:p.Pro260Thr
ENST00000646753.1:c.781C>A	ENSP00000494065.1:p.Pro261Thr
ENST00000267415.11:c.886C>A	ENSP00000267415.7:p.Pro296Thr
ENST00000399423.8:c.886C>A	ENSP00000382350.4:p.Pro296Thr
ENST00000557915.1:n.5C>A
ENST00000558566.1:c.*258C>A	ENSP00000453025.1:n.*258C>A
ENST00000559019.1:c.*258C>A	ENSP00000453675.1:n.*258C>A
ENST00000559549.1:n.612C>A
ENST00000559969.5:c.757+85C>A
ENST00000626689.2:c.*258C>A	ENSP00000486681.1:n.*258C>A
NM_001099274.1:c.886C>A	NP_001092744.1:p.Pro296Thr
NM_012461.2:c.886C>A	NP_036593.2:p.Pro296Thr
XM_005267528.2:c.886C>A	XP_005267585.1:p.Pro296Thr
XM_005267529.2:c.781C>A	XP_005267586.1:p.Pro261Thr
NM_001099274.2:c.886C>A	NP_001092744.1:p.Pro296Thr
NM_001363668.1:c.781C>A	NP_001350597.1:p.Pro261Thr
NM_012461.3:c.886C>A	NP_036593.2:p.Pro296Thr
XM_011536642.2:c.*266C>A	XP_011534944.1:n.*266C>A
XM_017021216.2:c.244C>A	XP_016876705.1:p.Pro82Thr
XM_017021217.1:c.244C>A	XP_016876706.1:p.Pro82Thr
NM_001099274.3:c.886C>A MANE Select	NP_001092744.1:p.Pro296Thr
NM_001363668.2:c.781C>A	NP_001350597.1:p.Pro261Thr