Canonical Allele Identifier: CA389223477

Gene: TINF2

Linked Data

• dbSNP Id: rs1456756773
• gnomAD v4: 14-24240437-G-A
• MyVariant Identifiers: chr14:g.24709643G>A (hg19) ; chr14:g.24240437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240437G>A , CM000676.2:g.24240437G>A	GRCh38
NC_000014.8:g.24709643G>A , CM000676.1:g.24709643G>A	GRCh37
NC_000014.7:g.23779483G>A	NCBI36
NG_016650.1:g.7238C>T
NG_054634.1:g.13021G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1346C>T
ENST00000557921.3:c.935C>T	ENSP00000453157.3:p.Pro312Leu
ENST00000699682.1:n.1433C>T
ENST00000699683.1:n.1483C>T
ENST00000699684.1:c.*636C>T	ENSP00000514523.1:n.*636C>T
ENST00000699685.1:n.1247C>T
ENST00000699686.1:c.836C>T	ENSP00000514524.1:p.Pro279Leu
ENST00000699687.1:c.938C>T	ENSP00000514525.1:p.Pro313Leu
ENST00000699688.1:n.1243C>T
ENST00000699689.1:n.1599C>T
ENST00000699690.1:n.1796C>T
ENST00000699691.1:n.1940C>T
ENST00000699693.1:n.1460C>T
ENST00000699694.1:n.1702C>T
ENST00000699695.1:c.*415C>T	ENSP00000514526.1:n.*415C>T
ENST00000699696.1:n.1346C>T
ENST00000699697.1:c.1043C>T	ENSP00000514527.1:p.Pro348Leu
ENST00000699698.1:n.964C>T
ENST00000699699.1:n.1367C>T
ENST00000699700.1:n.1490C>T
ENST00000699701.1:c.*423C>T	ENSP00000514528.1:n.*423C>T
ENST00000267415.12:c.1043C>T MANE Select	ENSP00000267415.7:p.Pro348Leu
ENST00000646753.1:c.938C>T	ENSP00000494065.1:p.Pro313Leu
ENST00000267415.11:c.1043C>T	ENSP00000267415.7:p.Pro348Leu
ENST00000399423.8:c.1043C>T	ENSP00000382350.4:p.Pro348Leu
ENST00000557915.1:n.162C>T
ENST00000558566.1:c.*415C>T	ENSP00000453025.1:n.*415C>T
ENST00000559969.5:c.801C>T
ENST00000560019.5:c.38C>T	ENSP00000453113.1:p.Pro13Leu
ENST00000626689.2:c.*415C>T	ENSP00000486681.1:n.*415C>T
NM_001099274.1:c.1043C>T	NP_001092744.1:p.Pro348Leu
NM_012461.2:c.1043C>T	NP_036593.2:p.Pro348Leu
XM_005267528.2:c.1043C>T	XP_005267585.1:p.Pro348Leu
XM_005267529.2:c.938C>T	XP_005267586.1:p.Pro313Leu
NM_001099274.2:c.1043C>T	NP_001092744.1:p.Pro348Leu
NM_001363668.1:c.938C>T	NP_001350597.1:p.Pro313Leu
NM_012461.3:c.1043C>T	NP_036593.2:p.Pro348Leu
XM_011536642.2:c.*423C>T	XP_011534944.1:n.*423C>T
XM_017021216.2:c.401C>T	XP_016876705.1:p.Pro134Leu
XM_017021217.1:c.401C>T	XP_016876706.1:p.Pro134Leu
NM_001099274.3:c.1043C>T MANE Select	NP_001092744.1:p.Pro348Leu
NM_001363668.2:c.938C>T	NP_001350597.1:p.Pro313Leu