Canonical Allele Identifier: CA485782122
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2902976
ClinVar RCV Id: RCV003647034
dbSNP Id: rs1426792982

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240613G>A , CM000676.2:g.24240613G>A GRCh38
NC_000014.8:g.24709819G>A , CM000676.1:g.24709819G>A GRCh37
NC_000014.7:g.23779659G>A NCBI36
NG_016650.1:g.7062C>T
NG_054634.1:g.13197G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1170C>T
ENST00000557921.3:c.759C>T ENSP00000453157.3:p.Pro253=
ENST00000699682.1:n.1257C>T
ENST00000699683.1:n.1307C>T
ENST00000699684.1:c.*460C>T ENSP00000514523.1:n.*460C>T
ENST00000699685.1:n.1071C>T
ENST00000699686.1:c.660C>T ENSP00000514524.1:p.Pro220=
ENST00000699687.1:c.762C>T ENSP00000514525.1:p.Pro254=
ENST00000699688.1:n.1067C>T
ENST00000699689.1:n.1423C>T
ENST00000699690.1:n.1620C>T
ENST00000699691.1:n.1764C>T
ENST00000699693.1:n.1284C>T
ENST00000699694.1:n.1526C>T
ENST00000699695.1:c.*239C>T ENSP00000514526.1:n.*239C>T
ENST00000699696.1:n.1170C>T
ENST00000699697.1:c.867C>T ENSP00000514527.1:p.Pro289=
ENST00000699698.1:n.788C>T
ENST00000699699.1:n.1191C>T
ENST00000699700.1:n.1314C>T
ENST00000699701.1:c.*247C>T ENSP00000514528.1:n.*247C>T
ENST00000267415.12:c.867C>T MANE Select ENSP00000267415.7:p.Pro289=
ENST00000557921.2:c.759C>T ENSP00000453157.2:p.Pro253=
ENST00000646753.1:c.762C>T ENSP00000494065.1:p.Pro254=
ENST00000267415.11:c.867C>T ENSP00000267415.7:p.Pro289=
ENST00000399423.8:c.867C>T ENSP00000382350.4:p.Pro289=
ENST00000558476.5:c.429C>T ENSP00000452724.1:p.Pro143=
ENST00000558566.1:c.*239C>T ENSP00000453025.1:n.*239C>T
ENST00000559019.1:c.*239C>T ENSP00000453675.1:n.*239C>T
ENST00000559549.1:n.593C>T
ENST00000559969.5:c.757+66C>T
ENST00000626689.2:c.*239C>T ENSP00000486681.1:n.*239C>T
NM_001099274.1:c.867C>T NP_001092744.1:p.Pro289=
NM_012461.2:c.867C>T NP_036593.2:p.Pro289=
XM_005267528.2:c.867C>T XP_005267585.1:p.Pro289=
XM_005267529.2:c.762C>T XP_005267586.1:p.Pro254=
NM_001099274.2:c.867C>T NP_001092744.1:p.Pro289=
NM_001363668.1:c.762C>T NP_001350597.1:p.Pro254=
NM_012461.3:c.867C>T NP_036593.2:p.Pro289=
XM_011536642.2:c.*247C>T XP_011534944.1:n.*247C>T
XM_017021216.2:c.225C>T XP_016876705.1:p.Pro75=
XM_017021217.1:c.225C>T XP_016876706.1:p.Pro75=
NM_001099274.3:c.867C>T MANE Select NP_001092744.1:p.Pro289=
NM_001363668.2:c.762C>T NP_001350597.1:p.Pro254=