Canonical Allele Identifier: CA389225517

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709838G>A (hg19) ; chr14:g.24240632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240632G>A , CM000676.2:g.24240632G>A	GRCh38
NC_000014.8:g.24709838G>A , CM000676.1:g.24709838G>A	GRCh37
NC_000014.7:g.23779678G>A	NCBI36
NG_016650.1:g.7043C>T
NG_054634.1:g.13216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1151C>T
ENST00000557921.3:c.740C>T	ENSP00000453157.3:p.Pro247Leu
ENST00000699682.1:n.1238C>T
ENST00000699683.1:n.1288C>T
ENST00000699684.1:c.*441C>T	ENSP00000514523.1:n.*441C>T
ENST00000699685.1:n.1052C>T
ENST00000699686.1:c.641C>T	ENSP00000514524.1:p.Pro214Leu
ENST00000699687.1:c.743C>T	ENSP00000514525.1:p.Pro248Leu
ENST00000699688.1:n.1048C>T
ENST00000699689.1:n.1404C>T
ENST00000699690.1:n.1601C>T
ENST00000699691.1:n.1745C>T
ENST00000699693.1:n.1265C>T
ENST00000699694.1:n.1507C>T
ENST00000699695.1:c.*220C>T	ENSP00000514526.1:n.*220C>T
ENST00000699696.1:n.1151C>T
ENST00000699697.1:c.848C>T	ENSP00000514527.1:p.Pro283Leu
ENST00000699698.1:n.769C>T
ENST00000699699.1:n.1172C>T
ENST00000699700.1:n.1295C>T
ENST00000699701.1:c.*228C>T	ENSP00000514528.1:n.*228C>T
ENST00000267415.12:c.848C>T MANE Select	ENSP00000267415.7:p.Pro283Leu
ENST00000557921.2:c.740C>T	ENSP00000453157.2:p.Pro247Leu
ENST00000646753.1:c.743C>T	ENSP00000494065.1:p.Pro248Leu
ENST00000267415.11:c.848C>T	ENSP00000267415.7:p.Pro283Leu
ENST00000399423.8:c.848C>T	ENSP00000382350.4:p.Pro283Leu
ENST00000558476.5:c.410C>T	ENSP00000452724.1:p.Pro137Leu
ENST00000558566.1:c.*220C>T	ENSP00000453025.1:n.*220C>T
ENST00000559019.1:c.*220C>T	ENSP00000453675.1:n.*220C>T
ENST00000559549.1:n.574C>T
ENST00000559969.5:c.757+47C>T
ENST00000626689.2:c.*220C>T	ENSP00000486681.1:n.*220C>T
NM_001099274.1:c.848C>T	NP_001092744.1:p.Pro283Leu
NM_012461.2:c.848C>T	NP_036593.2:p.Pro283Leu
XM_005267528.2:c.848C>T	XP_005267585.1:p.Pro283Leu
XM_005267529.2:c.743C>T	XP_005267586.1:p.Pro248Leu
NM_001099274.2:c.848C>T	NP_001092744.1:p.Pro283Leu
NM_001363668.1:c.743C>T	NP_001350597.1:p.Pro248Leu
NM_012461.3:c.848C>T	NP_036593.2:p.Pro283Leu
XM_011536642.2:c.*228C>T	XP_011534944.1:n.*228C>T
XM_017021216.2:c.206C>T	XP_016876705.1:p.Pro69Leu
XM_017021217.1:c.206C>T	XP_016876706.1:p.Pro69Leu
NM_001099274.3:c.848C>T MANE Select	NP_001092744.1:p.Pro283Leu
NM_001363668.2:c.743C>T	NP_001350597.1:p.Pro248Leu