Canonical Allele Identifier: CA389225272

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709814C>A (hg19) ; chr14:g.24240608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240608C>A , CM000676.2:g.24240608C>A	GRCh38
NC_000014.8:g.24709814C>A , CM000676.1:g.24709814C>A	GRCh37
NC_000014.7:g.23779654C>A	NCBI36
NG_016650.1:g.7067G>T
NG_054634.1:g.13192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1175G>T
ENST00000557921.3:c.764G>T	ENSP00000453157.3:p.Arg255Met
ENST00000699682.1:n.1262G>T
ENST00000699683.1:n.1312G>T
ENST00000699684.1:c.*465G>T	ENSP00000514523.1:n.*465G>T
ENST00000699685.1:n.1076G>T
ENST00000699686.1:c.665G>T	ENSP00000514524.1:p.Arg222Met
ENST00000699687.1:c.767G>T	ENSP00000514525.1:p.Arg256Met
ENST00000699688.1:n.1072G>T
ENST00000699689.1:n.1428G>T
ENST00000699690.1:n.1625G>T
ENST00000699691.1:n.1769G>T
ENST00000699693.1:n.1289G>T
ENST00000699694.1:n.1531G>T
ENST00000699695.1:c.*244G>T	ENSP00000514526.1:n.*244G>T
ENST00000699696.1:n.1175G>T
ENST00000699697.1:c.872G>T	ENSP00000514527.1:p.Arg291Met
ENST00000699698.1:n.793G>T
ENST00000699699.1:n.1196G>T
ENST00000699700.1:n.1319G>T
ENST00000699701.1:c.*252G>T	ENSP00000514528.1:n.*252G>T
ENST00000267415.12:c.872G>T MANE Select	ENSP00000267415.7:p.Arg291Met
ENST00000557921.2:c.764G>T	ENSP00000453157.2:p.Arg255Met
ENST00000646753.1:c.767G>T	ENSP00000494065.1:p.Arg256Met
ENST00000267415.11:c.872G>T	ENSP00000267415.7:p.Arg291Met
ENST00000399423.8:c.872G>T	ENSP00000382350.4:p.Arg291Met
ENST00000558476.5:c.434G>T	ENSP00000452724.1:p.Arg145Met
ENST00000558566.1:c.*244G>T	ENSP00000453025.1:n.*244G>T
ENST00000559019.1:c.*244G>T	ENSP00000453675.1:n.*244G>T
ENST00000559549.1:n.598G>T
ENST00000559969.5:c.757+71G>T
ENST00000626689.2:c.*244G>T	ENSP00000486681.1:n.*244G>T
NM_001099274.1:c.872G>T	NP_001092744.1:p.Arg291Met
NM_012461.2:c.872G>T	NP_036593.2:p.Arg291Met
XM_005267528.2:c.872G>T	XP_005267585.1:p.Arg291Met
XM_005267529.2:c.767G>T	XP_005267586.1:p.Arg256Met
NM_001099274.2:c.872G>T	NP_001092744.1:p.Arg291Met
NM_001363668.1:c.767G>T	NP_001350597.1:p.Arg256Met
NM_012461.3:c.872G>T	NP_036593.2:p.Arg291Met
XM_011536642.2:c.*252G>T	XP_011534944.1:n.*252G>T
XM_017021216.2:c.230G>T	XP_016876705.1:p.Arg77Met
XM_017021217.1:c.230G>T	XP_016876706.1:p.Arg77Met
NM_001099274.3:c.872G>T MANE Select	NP_001092744.1:p.Arg291Met
NM_001363668.2:c.767G>T	NP_001350597.1:p.Arg256Met