Canonical Allele Identifier: CA389225523

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709839G>T (hg19) ; chr14:g.24240633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240633G>T , CM000676.2:g.24240633G>T	GRCh38
NC_000014.8:g.24709839G>T , CM000676.1:g.24709839G>T	GRCh37
NC_000014.7:g.23779679G>T	NCBI36
NG_016650.1:g.7042C>A
NG_054634.1:g.13217G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1150C>A
ENST00000557921.3:c.739C>A	ENSP00000453157.3:p.Pro247Thr
ENST00000699682.1:n.1237C>A
ENST00000699683.1:n.1287C>A
ENST00000699684.1:c.*440C>A	ENSP00000514523.1:n.*440C>A
ENST00000699685.1:n.1051C>A
ENST00000699686.1:c.640C>A	ENSP00000514524.1:p.Pro214Thr
ENST00000699687.1:c.742C>A	ENSP00000514525.1:p.Pro248Thr
ENST00000699688.1:n.1047C>A
ENST00000699689.1:n.1403C>A
ENST00000699690.1:n.1600C>A
ENST00000699691.1:n.1744C>A
ENST00000699693.1:n.1264C>A
ENST00000699694.1:n.1506C>A
ENST00000699695.1:c.*219C>A	ENSP00000514526.1:n.*219C>A
ENST00000699696.1:n.1150C>A
ENST00000699697.1:c.847C>A	ENSP00000514527.1:p.Pro283Thr
ENST00000699698.1:n.768C>A
ENST00000699699.1:n.1171C>A
ENST00000699700.1:n.1294C>A
ENST00000699701.1:c.*227C>A	ENSP00000514528.1:n.*227C>A
ENST00000267415.12:c.847C>A MANE Select	ENSP00000267415.7:p.Pro283Thr
ENST00000557921.2:c.739C>A	ENSP00000453157.2:p.Pro247Thr
ENST00000646753.1:c.742C>A	ENSP00000494065.1:p.Pro248Thr
ENST00000267415.11:c.847C>A	ENSP00000267415.7:p.Pro283Thr
ENST00000399423.8:c.847C>A	ENSP00000382350.4:p.Pro283Thr
ENST00000558476.5:c.409C>A	ENSP00000452724.1:p.Pro137Thr
ENST00000558566.1:c.*219C>A	ENSP00000453025.1:n.*219C>A
ENST00000559019.1:c.*219C>A	ENSP00000453675.1:n.*219C>A
ENST00000559549.1:n.573C>A
ENST00000559969.5:c.757+46C>A
ENST00000626689.2:c.*219C>A	ENSP00000486681.1:n.*219C>A
NM_001099274.1:c.847C>A	NP_001092744.1:p.Pro283Thr
NM_012461.2:c.847C>A	NP_036593.2:p.Pro283Thr
XM_005267528.2:c.847C>A	XP_005267585.1:p.Pro283Thr
XM_005267529.2:c.742C>A	XP_005267586.1:p.Pro248Thr
NM_001099274.2:c.847C>A	NP_001092744.1:p.Pro283Thr
NM_001363668.1:c.742C>A	NP_001350597.1:p.Pro248Thr
NM_012461.3:c.847C>A	NP_036593.2:p.Pro283Thr
XM_011536642.2:c.*227C>A	XP_011534944.1:n.*227C>A
XM_017021216.2:c.205C>A	XP_016876705.1:p.Pro69Thr
XM_017021217.1:c.205C>A	XP_016876706.1:p.Pro69Thr
NM_001099274.3:c.847C>A MANE Select	NP_001092744.1:p.Pro283Thr
NM_001363668.2:c.742C>A	NP_001350597.1:p.Pro248Thr