Canonical Allele Identifier: CA343187

Gene: TINF2

Linked Data

• ClinVar Variation Id: 38924
• ClinVar RCV Id: RCV000032175 ; RCV001818202 ; RCV001852639
• dbSNP Id: rs199422316
• MyVariant Identifiers: chr14:g.24709826A>G (hg19) ; chr14:g.24240620A>G (hg38)
• PubMed: PMID:20301779

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
ENST00000557915.2:n.1163T>C
ENST00000557921.3:c.752T>C	ENSP00000453157.3:p.Leu251Pro
ENST00000699682.1:n.1250T>C
ENST00000699683.1:n.1300T>C
ENST00000699684.1:c.*453T>C	ENSP00000514523.1:n.*453T>C
ENST00000699685.1:n.1064T>C
ENST00000699686.1:c.653T>C	ENSP00000514524.1:p.Leu218Pro
ENST00000699687.1:c.755T>C	ENSP00000514525.1:p.Leu252Pro
ENST00000699688.1:n.1060T>C
ENST00000699689.1:n.1416T>C
ENST00000699690.1:n.1613T>C
ENST00000699691.1:n.1757T>C
ENST00000699693.1:n.1277T>C
ENST00000699694.1:n.1519T>C
ENST00000699695.1:c.*232T>C	ENSP00000514526.1:n.*232T>C
ENST00000699696.1:n.1163T>C
ENST00000699697.1:c.860T>C	ENSP00000514527.1:p.Leu287Pro
ENST00000699698.1:n.781T>C
ENST00000699699.1:n.1184T>C
ENST00000699700.1:n.1307T>C
ENST00000699701.1:c.*240T>C	ENSP00000514528.1:n.*240T>C
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:n.*232T>C
ENST00000559019.1:c.*232T>C	ENSP00000453675.1:n.*232T>C
ENST00000559549.1:n.586T>C
ENST00000559969.5:c.757+59T>C
ENST00000626689.2:c.*232T>C	ENSP00000486681.1:n.*232T>C
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:n.*240T>C
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