Canonical Allele Identifier: CA485782337
Gene: TINF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24709720T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240514T>G , CM000676.2:g.24240514T>G GRCh38
NC_000014.8:g.24709720T>G , CM000676.1:g.24709720T>G GRCh37
NC_000014.7:g.23779560T>G NCBI36
NG_016650.1:g.7161A>C
NG_054634.1:g.13098T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000557915.2:n.1269A>C
ENST00000557921.3:c.858A>C ENSP00000453157.3:p.Ala286=
ENST00000699682.1:n.1356A>C
ENST00000699683.1:n.1406A>C
ENST00000699684.1:c.*559A>C ENSP00000514523.1:n.*559A>C
ENST00000699685.1:n.1170A>C
ENST00000699686.1:c.759A>C ENSP00000514524.1:p.Ala253=
ENST00000699687.1:c.861A>C ENSP00000514525.1:p.Ala287=
ENST00000699688.1:n.1166A>C
ENST00000699689.1:n.1522A>C
ENST00000699690.1:n.1719A>C
ENST00000699691.1:n.1863A>C
ENST00000699693.1:n.1383A>C
ENST00000699694.1:n.1625A>C
ENST00000699695.1:c.*338A>C ENSP00000514526.1:n.*338A>C
ENST00000699696.1:n.1269A>C
ENST00000699697.1:c.966A>C ENSP00000514527.1:p.Ala322=
ENST00000699698.1:n.887A>C
ENST00000699699.1:n.1290A>C
ENST00000699700.1:n.1413A>C
ENST00000699701.1:c.*346A>C ENSP00000514528.1:n.*346A>C
ENST00000267415.12:c.966A>C MANE Select ENSP00000267415.7:p.Ala322=
ENST00000557921.2:c.858A>C ENSP00000453157.2:p.Ala286=
ENST00000646753.1:c.861A>C ENSP00000494065.1:p.Ala287=
ENST00000267415.11:c.966A>C ENSP00000267415.7:p.Ala322=
ENST00000399423.8:c.966A>C ENSP00000382350.4:p.Ala322=
ENST00000557915.1:n.85A>C
ENST00000558566.1:c.*338A>C ENSP00000453025.1:n.*338A>C
ENST00000559019.1:c.*338A>C ENSP00000453675.1:n.*338A>C
ENST00000559969.5:c.758-34A>C
ENST00000626689.2:c.*338A>C ENSP00000486681.1:n.*338A>C
NM_001099274.1:c.966A>C NP_001092744.1:p.Ala322=
NM_012461.2:c.966A>C NP_036593.2:p.Ala322=
XM_005267528.2:c.966A>C XP_005267585.1:p.Ala322=
XM_005267529.2:c.861A>C XP_005267586.1:p.Ala287=
NM_001099274.2:c.966A>C NP_001092744.1:p.Ala322=
NM_001363668.1:c.861A>C NP_001350597.1:p.Ala287=
NM_012461.3:c.966A>C NP_036593.2:p.Ala322=
XM_011536642.2:c.*346A>C XP_011534944.1:n.*346A>C
XM_017021216.2:c.324A>C XP_016876705.1:p.Ala108=
XM_017021217.1:c.324A>C XP_016876706.1:p.Ala108=
NM_001099274.3:c.966A>C MANE Select NP_001092744.1:p.Ala322=
NM_001363668.2:c.861A>C NP_001350597.1:p.Ala287=