Canonical Allele Identifier: CA343172
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38916
dbSNP Id: rs142777869

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240746G>T , CM000676.2:g.24240746G>T GRCh38
NC_000014.8:g.24709952G>T , CM000676.1:g.24709952G>T GRCh37
NC_000014.7:g.23779792G>T NCBI36
NG_016650.1:g.6929C>A
NG_054634.1:g.13330G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267415.12:c.734C>A MANE Select ENSP00000267415.7:p.Ser245Tyr
ENST00000557921.2:c.626C>A ENSP00000453157.2:p.Ser209Tyr
ENST00000646753.1:c.629C>A ENSP00000494065.1:p.Ser210Tyr
ENST00000267415.11:c.734C>A ENSP00000267415.7:p.Ser245Tyr
ENST00000399423.8:c.734C>A ENSP00000382350.4:p.Ser245Tyr
ENST00000558476.5:c.296C>A ENSP00000452724.1:p.Ser99Tyr
ENST00000558566.1:c.*106C>A ENSP00000453025.1:p.=
ENST00000559019.1:c.*106C>A ENSP00000453675.1:p.=
ENST00000559549.1:n.460C>A
ENST00000559969.5:n.690C>A
ENST00000626689.2:c.*106C>A ENSP00000486681.1:p.=
NM_001099274.1:c.734C>A NP_001092744.1:p.Ser245Tyr
NM_012461.2:c.734C>A NP_036593.2:p.Ser245Tyr
XM_005267528.2:c.734C>A XP_005267585.1:p.Ser245Tyr
XM_005267529.2:c.629C>A XP_005267586.1:p.Ser210Tyr
NM_001099274.2:c.734C>A NP_001092744.1:p.Ser245Tyr
NM_001363668.1:c.629C>A NP_001350597.1:p.Ser210Tyr
NM_012461.3:c.734C>A NP_036593.2:p.Ser245Tyr
XM_011536642.2:c.*114C>A XP_011534944.1:p.=
XM_017021216.2:c.92C>A XP_016876705.1:p.Ser31Tyr
XM_017021217.1:c.92C>A XP_016876706.1:p.Ser31Tyr
NM_001099274.3:c.734C>A MANE Select NP_001092744.1:p.Ser245Tyr
NM_001363668.2:c.629C>A NP_001350597.1:p.Ser210Tyr