Canonical Allele Identifier: CA7130530

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2917942
• ClinVar RCV Id: RCV003647205
• dbSNP Id: rs756029660
• ExAC: 14:24709675 T / TC
• gnomAD v2: 14-24709675-T-TC
• gnomAD v3: 14-24240469-T-TC
• gnomAD v4: 14-24240469-T-TC
• MyVariant Identifiers: chr14:g.24709676_24709677insC (hg19) ; chr14:g.24709675_24709676insC (hg19) ; chr14:g.24240469_24240470insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240475dup , CM000676.2:g.24240475dup	GRCh38
NC_000014.8:g.24709681dup , CM000676.1:g.24709681dup	GRCh37
NC_000014.7:g.23779521dup	NCBI36
NG_016650.1:g.7205dup
NG_054634.1:g.13059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1313dup
ENST00000557921.3:c.902dup	ENSP00000453157.3:p.Arg302LysfsTer9
ENST00000699682.1:n.1400dup
ENST00000699683.1:n.1450dup
ENST00000699684.1:c.*603dup	ENSP00000514523.1:n.*603dup
ENST00000699685.1:n.1214dup
ENST00000699686.1:c.803dup	ENSP00000514524.1:p.Arg269LysfsTer9
ENST00000699687.1:c.905dup	ENSP00000514525.1:p.Arg303LysfsTer9
ENST00000699688.1:n.1210dup
ENST00000699689.1:n.1566dup
ENST00000699690.1:n.1763dup
ENST00000699691.1:n.1907dup
ENST00000699693.1:n.1427dup
ENST00000699694.1:n.1669dup
ENST00000699695.1:c.*382dup	ENSP00000514526.1:n.*382dup
ENST00000699696.1:n.1313dup
ENST00000699697.1:c.1010dup	ENSP00000514527.1:p.Arg338LysfsTer9
ENST00000699698.1:n.931dup
ENST00000699699.1:n.1334dup
ENST00000699700.1:n.1457dup
ENST00000699701.1:c.*390dup	ENSP00000514528.1:n.*390dup
ENST00000267415.12:c.1010dup MANE Select	ENSP00000267415.7:p.Arg338LysfsTer9
ENST00000646753.1:c.905dup	ENSP00000494065.1:p.Arg303LysfsTer9
ENST00000267415.11:c.1010dup	ENSP00000267415.7:p.Arg338LysfsTer9
ENST00000399423.8:c.1010dup	ENSP00000382350.4:p.Arg338LysfsTer9
ENST00000557915.1:n.129dup
ENST00000558566.1:c.*382dup	ENSP00000453025.1:n.*382dup
ENST00000559969.5:c.768dup
ENST00000626689.2:c.*382dup	ENSP00000486681.1:n.*382dup
NM_001099274.1:c.1010dup	NP_001092744.1:p.Arg338LysfsTer9
NM_012461.2:c.1010dup	NP_036593.2:p.Arg338LysfsTer9
XM_005267528.2:c.1010dup	XP_005267585.1:p.Arg338LysfsTer9
XM_005267529.2:c.905dup	XP_005267586.1:p.Arg303LysfsTer9
NM_001099274.2:c.1010dup	NP_001092744.1:p.Arg338LysfsTer9
NM_001363668.1:c.905dup	NP_001350597.1:p.Arg303LysfsTer9
NM_012461.3:c.1010dup	NP_036593.2:p.Arg338LysfsTer9
XM_011536642.2:c.*390dup	XP_011534944.1:n.*390dup
XM_017021216.2:c.368dup	XP_016876705.1:p.Arg124LysfsTer9
XM_017021217.1:c.368dup	XP_016876706.1:p.Arg124LysfsTer9
NM_001099274.3:c.1010dup MANE Select	NP_001092744.1:p.Arg338LysfsTer9
NM_001363668.2:c.905dup	NP_001350597.1:p.Arg303LysfsTer9