Canonical Allele Identifier: CA343195
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38928
ClinVar RCV Id: RCV000032179
dbSNP Id: rs199422320

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240590del , CM000676.2:g.24240590del GRCh38
NC_000014.8:g.24709796del , CM000676.1:g.24709796del GRCh37
NC_000014.7:g.23779636del NCBI36
NG_016650.1:g.7087del
NG_054634.1:g.13174del

Transcript Alleles

HGVS Amino-acid change
ENST00000267415.12:c.892del MANE Select ENSP00000267415.7:p.Gln298ArgfsTer19
ENST00000557921.2:c.784del ENSP00000453157.2:p.Gln262ArgfsTer19
ENST00000646753.1:c.787del ENSP00000494065.1:p.Gln263ArgfsTer19
ENST00000267415.11:c.892del ENSP00000267415.7:p.Gln298ArgfsTer19
ENST00000399423.8:c.892del ENSP00000382350.4:p.Gln298ArgfsTer19
ENST00000557915.1:n.11del
ENST00000558566.1:c.*264del ENSP00000453025.1:p.=
ENST00000559019.1:c.*264del ENSP00000453675.1:p.=
ENST00000559549.1:n.618del
ENST00000559969.5:n.757+91del
ENST00000626689.2:c.*264del ENSP00000486681.1:p.=
NM_001099274.1:c.892del NP_001092744.1:p.Gln298ArgfsTer19
NM_012461.2:c.892del NP_036593.2:p.Gln298ArgfsTer19
XM_005267528.2:c.892del XP_005267585.1:p.Gln298ArgfsTer19
XM_005267529.2:c.787del XP_005267586.1:p.Gln263ArgfsTer19
NM_001099274.2:c.892del NP_001092744.1:p.Gln298ArgfsTer19
NM_001363668.1:c.787del NP_001350597.1:p.Gln263ArgfsTer19
NM_012461.3:c.892del NP_036593.2:p.Gln298ArgfsTer19
XM_011536642.2:c.*272del XP_011534944.1:p.=
XM_017021216.2:c.250del XP_016876705.1:p.Gln84ArgfsTer19
XM_017021217.1:c.250del XP_016876706.1:p.Gln84ArgfsTer19
NM_001099274.3:c.892del MANE Select NP_001092744.1:p.Gln298ArgfsTer19
NM_001363668.2:c.787del NP_001350597.1:p.Gln263ArgfsTer19