Canonical Allele Identifier: CA7130539

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1134354
• ClinVar RCV Id: RCV001469231
• dbSNP Id: rs751773020
• ExAC: 14:24709702 A / G
• gnomAD v2: 14-24709702-A-G
• gnomAD v3: 14-24240496-A-G
• gnomAD v4: 14-24240496-A-G
• MyVariant Identifiers: chr14:g.24709702A>G (hg19) ; chr14:g.24240496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240496A>G , CM000676.2:g.24240496A>G	GRCh38
NC_000014.8:g.24709702A>G , CM000676.1:g.24709702A>G	GRCh37
NC_000014.7:g.23779542A>G	NCBI36
NG_016650.1:g.7179T>C
NG_054634.1:g.13080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1287T>C
ENST00000557921.3:c.876T>C	ENSP00000453157.3:p.Ser292=
ENST00000699682.1:n.1374T>C
ENST00000699683.1:n.1424T>C
ENST00000699684.1:c.*577T>C	ENSP00000514523.1:n.*577T>C
ENST00000699685.1:n.1188T>C
ENST00000699686.1:c.777T>C	ENSP00000514524.1:p.Ser259=
ENST00000699687.1:c.879T>C	ENSP00000514525.1:p.Ser293=
ENST00000699688.1:n.1184T>C
ENST00000699689.1:n.1540T>C
ENST00000699690.1:n.1737T>C
ENST00000699691.1:n.1881T>C
ENST00000699693.1:n.1401T>C
ENST00000699694.1:n.1643T>C
ENST00000699695.1:c.*356T>C	ENSP00000514526.1:n.*356T>C
ENST00000699696.1:n.1287T>C
ENST00000699697.1:c.984T>C	ENSP00000514527.1:p.Ser328=
ENST00000699698.1:n.905T>C
ENST00000699699.1:n.1308T>C
ENST00000699700.1:n.1431T>C
ENST00000699701.1:c.*364T>C	ENSP00000514528.1:n.*364T>C
ENST00000267415.12:c.984T>C MANE Select	ENSP00000267415.7:p.Ser328=
ENST00000646753.1:c.879T>C	ENSP00000494065.1:p.Ser293=
ENST00000267415.11:c.984T>C	ENSP00000267415.7:p.Ser328=
ENST00000399423.8:c.984T>C	ENSP00000382350.4:p.Ser328=
ENST00000557915.1:n.103T>C
ENST00000558566.1:c.*356T>C	ENSP00000453025.1:n.*356T>C
ENST00000559019.1:c.*356T>C	ENSP00000453675.1:n.*356T>C
ENST00000559969.5:c.758-16T>C
ENST00000626689.2:c.*356T>C	ENSP00000486681.1:n.*356T>C
NM_001099274.1:c.984T>C	NP_001092744.1:p.Ser328=
NM_012461.2:c.984T>C	NP_036593.2:p.Ser328=
XM_005267528.2:c.984T>C	XP_005267585.1:p.Ser328=
XM_005267529.2:c.879T>C	XP_005267586.1:p.Ser293=
NM_001099274.2:c.984T>C	NP_001092744.1:p.Ser328=
NM_001363668.1:c.879T>C	NP_001350597.1:p.Ser293=
NM_012461.3:c.984T>C	NP_036593.2:p.Ser328=
XM_011536642.2:c.*364T>C	XP_011534944.1:n.*364T>C
XM_017021216.2:c.342T>C	XP_016876705.1:p.Ser114=
XM_017021217.1:c.342T>C	XP_016876706.1:p.Ser114=
NM_001099274.3:c.984T>C MANE Select	NP_001092744.1:p.Ser328=
NM_001363668.2:c.879T>C	NP_001350597.1:p.Ser293=