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
ENST00000557915.2:n.1168_1169delinsAG
ENST00000557921.3:c.757_758delinsAG ENSP00000453157.3:p.Pro253Ser
ENST00000699682.1:n.1255_1256delinsAG
ENST00000699683.1:n.1305_1306delinsAG
ENST00000699684.1:c.*458_*459delinsAG ENSP00000514523.1:n.*458_*459delinsAG
ENST00000699685.1:n.1069_1070delinsAG
ENST00000699686.1:c.658_659delinsAG ENSP00000514524.1:p.Pro220Ser
ENST00000699687.1:c.760_761delinsAG ENSP00000514525.1:p.Pro254Ser
ENST00000699688.1:n.1065_1066delinsAG
ENST00000699689.1:n.1421_1422delinsAG
ENST00000699690.1:n.1618_1619delinsAG
ENST00000699691.1:n.1762_1763delinsAG
ENST00000699693.1:n.1282_1283delinsAG
ENST00000699694.1:n.1524_1525delinsAG
ENST00000699695.1:c.*237_*238delinsAG ENSP00000514526.1:n.*237_*238delinsAG
ENST00000699696.1:n.1168_1169delinsAG
ENST00000699697.1:c.865_866delinsAG ENSP00000514527.1:p.Pro289Ser
ENST00000699698.1:n.786_787delinsAG
ENST00000699699.1:n.1189_1190delinsAG
ENST00000699700.1:n.1312_1313delinsAG
ENST00000699701.1:c.*245_*246delinsAG ENSP00000514528.1:n.*245_*246delinsAG
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:n.*237_*238delinsAG
ENST00000559019.1:c.*237_*238delinsAG ENSP00000453675.1:n.*237_*238delinsAG
ENST00000559549.1:n.591_592delinsAG
ENST00000559969.5:c.757+64_757+65delinsAG
ENST00000626689.2:c.*237_*238delinsAG ENSP00000486681.1:n.*237_*238delinsAG
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:n.*245_*246delinsAG
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