Canonical Allele Identifier: CA343187
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38924
ClinVar RCV Id: RCV000032175
dbSNP Id: rs199422316

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240620A>G , CM000676.2:g.24240620A>G GRCh38
NC_000014.8:g.24709826A>G , CM000676.1:g.24709826A>G GRCh37
NC_000014.7:g.23779666A>G NCBI36
NG_016650.1:g.7055T>C
NG_054634.1:g.13204A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267415.12:c.860T>C MANE Select ENSP00000267415.7:p.Leu287Pro
ENST00000557921.2:c.752T>C ENSP00000453157.2:p.Leu251Pro
ENST00000646753.1:c.755T>C ENSP00000494065.1:p.Leu252Pro
ENST00000267415.11:c.860T>C ENSP00000267415.7:p.Leu287Pro
ENST00000399423.8:c.860T>C ENSP00000382350.4:p.Leu287Pro
ENST00000558476.5:c.422T>C ENSP00000452724.1:p.Leu141Pro
ENST00000558566.1:c.*232T>C ENSP00000453025.1:p.=
ENST00000559019.1:c.*232T>C ENSP00000453675.1:p.=
ENST00000559549.1:n.586T>C
ENST00000559969.5:n.757+59T>C
ENST00000626689.2:c.*232T>C ENSP00000486681.1:p.=
NM_001099274.1:c.860T>C NP_001092744.1:p.Leu287Pro
NM_012461.2:c.860T>C NP_036593.2:p.Leu287Pro
XM_005267528.2:c.860T>C XP_005267585.1:p.Leu287Pro
XM_005267529.2:c.755T>C XP_005267586.1:p.Leu252Pro
NM_001099274.2:c.860T>C NP_001092744.1:p.Leu287Pro
NM_001363668.1:c.755T>C NP_001350597.1:p.Leu252Pro
NM_012461.3:c.860T>C NP_036593.2:p.Leu287Pro
XM_011536642.2:c.*240T>C XP_011534944.1:p.=
XM_017021216.2:c.218T>C XP_016876705.1:p.Leu73Pro
XM_017021217.1:c.218T>C XP_016876706.1:p.Leu73Pro
NM_001099274.3:c.860T>C MANE Select NP_001092744.1:p.Leu287Pro
NM_001363668.2:c.755T>C NP_001350597.1:p.Leu252Pro