Canonical Allele Identifier: CA389223375

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709631T>C (hg19) ; chr14:g.24240425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240425T>C , CM000676.2:g.24240425T>C	GRCh38
NC_000014.8:g.24709631T>C , CM000676.1:g.24709631T>C	GRCh37
NC_000014.7:g.23779471T>C	NCBI36
NG_016650.1:g.7250A>G
NG_054634.1:g.13009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1358A>G
ENST00000557921.3:c.947A>G	ENSP00000453157.3:p.Gln316Arg
ENST00000699682.1:n.1445A>G
ENST00000699683.1:n.1495A>G
ENST00000699684.1:c.*648A>G	ENSP00000514523.1:n.*648A>G
ENST00000699685.1:n.1259A>G
ENST00000699686.1:c.848A>G	ENSP00000514524.1:p.Gln283Arg
ENST00000699687.1:c.950A>G	ENSP00000514525.1:p.Gln317Arg
ENST00000699688.1:n.1255A>G
ENST00000699689.1:n.1611A>G
ENST00000699690.1:n.1808A>G
ENST00000699691.1:n.1952A>G
ENST00000699693.1:n.1472A>G
ENST00000699694.1:n.1714A>G
ENST00000699695.1:c.*427A>G	ENSP00000514526.1:n.*427A>G
ENST00000699696.1:n.1358A>G
ENST00000699697.1:c.1055A>G	ENSP00000514527.1:p.Gln352Arg
ENST00000699698.1:n.976A>G
ENST00000699699.1:n.1379A>G
ENST00000699700.1:n.1502A>G
ENST00000699701.1:c.*435A>G	ENSP00000514528.1:n.*435A>G
ENST00000267415.12:c.1055A>G MANE Select	ENSP00000267415.7:p.Gln352Arg
ENST00000646753.1:c.950A>G	ENSP00000494065.1:p.Gln317Arg
ENST00000267415.11:c.1055A>G	ENSP00000267415.7:p.Gln352Arg
ENST00000399423.8:c.1055A>G	ENSP00000382350.4:p.Gln352Arg
ENST00000557915.1:n.174A>G
ENST00000558566.1:c.*427A>G	ENSP00000453025.1:n.*427A>G
ENST00000559969.5:c.813A>G
ENST00000560019.5:c.50A>G	ENSP00000453113.1:p.Gln17Arg
ENST00000626689.2:c.*427A>G	ENSP00000486681.1:n.*427A>G
NM_001099274.1:c.1055A>G	NP_001092744.1:p.Gln352Arg
NM_012461.2:c.1055A>G	NP_036593.2:p.Gln352Arg
XM_005267528.2:c.1055A>G	XP_005267585.1:p.Gln352Arg
XM_005267529.2:c.950A>G	XP_005267586.1:p.Gln317Arg
NM_001099274.2:c.1055A>G	NP_001092744.1:p.Gln352Arg
NM_001363668.1:c.950A>G	NP_001350597.1:p.Gln317Arg
NM_012461.3:c.1055A>G	NP_036593.2:p.Gln352Arg
XM_011536642.2:c.*435A>G	XP_011534944.1:n.*435A>G
XM_017021216.2:c.413A>G	XP_016876705.1:p.Gln138Arg
XM_017021217.1:c.413A>G	XP_016876706.1:p.Gln138Arg
NM_001099274.3:c.1055A>G MANE Select	NP_001092744.1:p.Gln352Arg
NM_001363668.2:c.950A>G	NP_001350597.1:p.Gln317Arg