Canonical Allele Identifier: CA343191
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38926
ClinVar RCV Id: RCV000032177
dbSNP Id: rs199422318

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240614_24240615delinsCT , CM000676.2:g.24240614_24240615delinsCT GRCh38
NC_000014.8:g.24709820_24709821delinsCT , CM000676.1:g.24709820_24709821delinsCT GRCh37
NC_000014.7:g.23779660_23779661delinsCT NCBI36
NG_016650.1:g.7060_7061delinsAG
NG_054634.1:g.13198_13199delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000267415.12:c.865_866delinsAG MANE Select ENSP00000267415.7:p.Pro289Ser
ENST00000557921.2:c.757_758delinsAG ENSP00000453157.2:p.Pro253Ser
ENST00000646753.1:c.760_761delinsAG ENSP00000494065.1:p.Pro254Ser
ENST00000267415.11:c.865_866delinsAG ENSP00000267415.7:p.Pro289Ser
ENST00000399423.8:c.865_866delinsAG ENSP00000382350.4:p.Pro289Ser
ENST00000558476.5:c.427_428delinsAG ENSP00000452724.1:p.Pro143Ser
ENST00000558566.1:c.*237_*238delinsAG ENSP00000453025.1:p.=
ENST00000559019.1:c.*237_*238delinsAG ENSP00000453675.1:p.=
ENST00000559549.1:n.591_592delinsAG
ENST00000559969.5:n.757+64_757+65delinsAG
ENST00000626689.2:c.*237_*238delinsAG ENSP00000486681.1:p.=
NM_001099274.1:c.865_866delinsAG NP_001092744.1:p.Pro289Ser
NM_012461.2:c.865_866delinsAG NP_036593.2:p.Pro289Ser
XM_005267528.2:c.865_866delinsAG XP_005267585.1:p.Pro289Ser
XM_005267529.2:c.760_761delinsAG XP_005267586.1:p.Pro254Ser
NM_001099274.2:c.865_866delinsAG NP_001092744.1:p.Pro289Ser
NM_001363668.1:c.760_761delinsAG NP_001350597.1:p.Pro254Ser
NM_012461.3:c.865_866delinsAG NP_036593.2:p.Pro289Ser
XM_011536642.2:c.*245_*246delinsAG XP_011534944.1:p.=
XM_017021216.2:c.223_224delinsAG XP_016876705.1:p.Pro75Ser
XM_017021217.1:c.223_224delinsAG XP_016876706.1:p.Pro75Ser
NM_001099274.3:c.865_866delinsAG MANE Select NP_001092744.1:p.Pro289Ser
NM_001363668.2:c.760_761delinsAG NP_001350597.1:p.Pro254Ser