Canonical Allele Identifier: CA278909

Gene: TINF2

Linked Data

• ClinVar Variation Id: 37090
• ClinVar RCV Id: RCV000030737
• dbSNP Id: rs863223324
• MyVariant Identifiers: chr14:g.24709860del (hg19) ; chr14:g.24240654del (hg38)
• PubMed: PMID:21199492

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240654del , CM000676.2:g.24240654del	GRCh38
NC_000014.8:g.24709860del , CM000676.1:g.24709860del	GRCh37
NC_000014.7:g.23779700del	NCBI36
NG_016650.1:g.7021del
NG_054634.1:g.13238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1129del
ENST00000557921.3:c.718del	ENSP00000453157.3:p.Arg240GlyfsTer?
ENST00000699682.1:n.1216del
ENST00000699683.1:n.1266del
ENST00000699684.1:c.*419del	ENSP00000514523.1:n.*419del
ENST00000699685.1:n.1030del
ENST00000699686.1:c.619del	ENSP00000514524.1:p.Arg207GlyfsTer?
ENST00000699687.1:c.721del	ENSP00000514525.1:p.Arg241GlyfsTer?
ENST00000699688.1:n.1026del
ENST00000699689.1:n.1382del
ENST00000699690.1:n.1579del
ENST00000699691.1:n.1723del
ENST00000699693.1:n.1243del
ENST00000699694.1:n.1485del
ENST00000699695.1:c.*198del	ENSP00000514526.1:n.*198del
ENST00000699696.1:n.1129del
ENST00000699697.1:c.826del	ENSP00000514527.1:p.Arg276GlyfsTer?
ENST00000699698.1:n.747del
ENST00000699699.1:n.1150del
ENST00000699700.1:n.1273del
ENST00000699701.1:c.*206del	ENSP00000514528.1:n.*206del
ENST00000267415.12:c.826del MANE Select	ENSP00000267415.7:p.Arg276GlyfsTer?
ENST00000557921.2:c.718del	ENSP00000453157.2:p.Arg240GlyfsTer?
ENST00000646753.1:c.721del	ENSP00000494065.1:p.Arg241GlyfsTer?
ENST00000267415.11:c.826del	ENSP00000267415.7:p.Arg276GlyfsTer?
ENST00000399423.8:c.826del	ENSP00000382350.4:p.Arg276GlyfsTer?
ENST00000558476.5:c.388del	ENSP00000452724.1:p.Arg130GlyfsTer?
ENST00000558566.1:c.*198del	ENSP00000453025.1:n.*198del
ENST00000559019.1:c.*198del	ENSP00000453675.1:n.*198del
ENST00000559549.1:n.552del
ENST00000559969.5:c.757+25del
ENST00000626689.2:c.*198del	ENSP00000486681.1:n.*198del
NM_001099274.1:c.826del	NP_001092744.1:p.Arg276GlyfsTer?
NM_012461.2:c.826del	NP_036593.2:p.Arg276GlyfsTer?
XM_005267528.2:c.826del	XP_005267585.1:p.Arg276GlyfsTer?
XM_005267529.2:c.721del	XP_005267586.1:p.Arg241GlyfsTer?
NM_001099274.2:c.826del	NP_001092744.1:p.Arg276GlyfsTer?
NM_001363668.1:c.721del	NP_001350597.1:p.Arg241GlyfsTer?
NM_012461.3:c.826del	NP_036593.2:p.Arg276GlyfsTer?
XM_011536642.2:c.*206del	XP_011534944.1:n.*206del
XM_017021216.2:c.184del	XP_016876705.1:p.Arg62GlyfsTer?
XM_017021217.1:c.184del	XP_016876706.1:p.Arg62GlyfsTer?
NM_001099274.3:c.826del MANE Select	NP_001092744.1:p.Arg276GlyfsTer?
NM_001363668.2:c.721del	NP_001350597.1:p.Arg241GlyfsTer?