Canonical Allele Identifier: CA389223473

Gene: TINF2

Linked Data

• dbSNP Id: rs1456756773
• MyVariant Identifiers: chr14:g.24709643G>C (hg19) ; chr14:g.24240437G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1346C>G
ENST00000557921.3:c.935C>G	ENSP00000453157.3:p.Pro312Arg
ENST00000699682.1:n.1433C>G
ENST00000699683.1:n.1483C>G
ENST00000699684.1:c.*636C>G	ENSP00000514523.1:n.*636C>G
ENST00000699685.1:n.1247C>G
ENST00000699686.1:c.836C>G	ENSP00000514524.1:p.Pro279Arg
ENST00000699687.1:c.938C>G	ENSP00000514525.1:p.Pro313Arg
ENST00000699688.1:n.1243C>G
ENST00000699689.1:n.1599C>G
ENST00000699690.1:n.1796C>G
ENST00000699691.1:n.1940C>G
ENST00000699693.1:n.1460C>G
ENST00000699694.1:n.1702C>G
ENST00000699695.1:c.*415C>G	ENSP00000514526.1:n.*415C>G
ENST00000699696.1:n.1346C>G
ENST00000699697.1:c.1043C>G	ENSP00000514527.1:p.Pro348Arg
ENST00000699698.1:n.964C>G
ENST00000699699.1:n.1367C>G
ENST00000699700.1:n.1490C>G
ENST00000699701.1:c.*423C>G	ENSP00000514528.1:n.*423C>G
ENST00000267415.12:c.1043C>G MANE Select	ENSP00000267415.7:p.Pro348Arg
ENST00000646753.1:c.938C>G	ENSP00000494065.1:p.Pro313Arg
ENST00000267415.11:c.1043C>G	ENSP00000267415.7:p.Pro348Arg
ENST00000399423.8:c.1043C>G	ENSP00000382350.4:p.Pro348Arg
ENST00000557915.1:n.162C>G
ENST00000558566.1:c.*415C>G	ENSP00000453025.1:n.*415C>G
ENST00000559969.5:c.801C>G
ENST00000560019.5:c.38C>G	ENSP00000453113.1:p.Pro13Arg
ENST00000626689.2:c.*415C>G	ENSP00000486681.1:n.*415C>G
NM_001099274.1:c.1043C>G	NP_001092744.1:p.Pro348Arg
NM_012461.2:c.1043C>G	NP_036593.2:p.Pro348Arg
XM_005267528.2:c.1043C>G	XP_005267585.1:p.Pro348Arg
XM_005267529.2:c.938C>G	XP_005267586.1:p.Pro313Arg
NM_001099274.2:c.1043C>G	NP_001092744.1:p.Pro348Arg
NM_001363668.1:c.938C>G	NP_001350597.1:p.Pro313Arg
NM_012461.3:c.1043C>G	NP_036593.2:p.Pro348Arg
XM_011536642.2:c.*423C>G	XP_011534944.1:n.*423C>G
XM_017021216.2:c.401C>G	XP_016876705.1:p.Pro134Arg
XM_017021217.1:c.401C>G	XP_016876706.1:p.Pro134Arg
NM_001099274.3:c.1043C>G MANE Select	NP_001092744.1:p.Pro348Arg
NM_001363668.2:c.938C>G	NP_001350597.1:p.Pro313Arg