Canonical Allele Identifier: CA485782182

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1762147
• ClinVar RCV Id: RCV002421352
• dbSNP Id: rs1221913100
• gnomAD v2: 14-24709873-T-C
• gnomAD v4: 14-24240667-T-C
• MyVariant Identifiers: chr14:g.24709873T>C (hg19) ; chr14:g.24240667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240667T>C , CM000676.2:g.24240667T>C	GRCh38
NC_000014.8:g.24709873T>C , CM000676.1:g.24709873T>C	GRCh37
NC_000014.7:g.23779713T>C	NCBI36
NG_016650.1:g.7008A>G
NG_054634.1:g.13251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1116A>G
ENST00000557921.3:c.705A>G	ENSP00000453157.3:p.Gln235=
ENST00000699682.1:n.1203A>G
ENST00000699683.1:n.1253A>G
ENST00000699684.1:c.*406A>G	ENSP00000514523.1:n.*406A>G
ENST00000699685.1:n.1017A>G
ENST00000699686.1:c.606A>G	ENSP00000514524.1:p.Gln202=
ENST00000699687.1:c.708A>G	ENSP00000514525.1:p.Gln236=
ENST00000699688.1:n.1013A>G
ENST00000699689.1:n.1369A>G
ENST00000699690.1:n.1566A>G
ENST00000699691.1:n.1710A>G
ENST00000699693.1:n.1230A>G
ENST00000699694.1:n.1472A>G
ENST00000699695.1:c.*185A>G	ENSP00000514526.1:n.*185A>G
ENST00000699696.1:n.1116A>G
ENST00000699697.1:c.813A>G	ENSP00000514527.1:p.Gln271=
ENST00000699698.1:n.734A>G
ENST00000699699.1:n.1137A>G
ENST00000699700.1:n.1260A>G
ENST00000699701.1:c.*193A>G	ENSP00000514528.1:n.*193A>G
ENST00000267415.12:c.813A>G MANE Select	ENSP00000267415.7:p.Gln271=
ENST00000557921.2:c.705A>G	ENSP00000453157.2:p.Gln235=
ENST00000646753.1:c.708A>G	ENSP00000494065.1:p.Gln236=
ENST00000267415.11:c.813A>G	ENSP00000267415.7:p.Gln271=
ENST00000399423.8:c.813A>G	ENSP00000382350.4:p.Gln271=
ENST00000558476.5:c.375A>G	ENSP00000452724.1:p.Gln125=
ENST00000558566.1:c.*185A>G	ENSP00000453025.1:n.*185A>G
ENST00000559019.1:c.*185A>G	ENSP00000453675.1:n.*185A>G
ENST00000559549.1:n.539A>G
ENST00000559969.5:c.757+12A>G
ENST00000626689.2:c.*185A>G	ENSP00000486681.1:n.*185A>G
NM_001099274.1:c.813A>G	NP_001092744.1:p.Gln271=
NM_012461.2:c.813A>G	NP_036593.2:p.Gln271=
XM_005267528.2:c.813A>G	XP_005267585.1:p.Gln271=
XM_005267529.2:c.708A>G	XP_005267586.1:p.Gln236=
NM_001099274.2:c.813A>G	NP_001092744.1:p.Gln271=
NM_001363668.1:c.708A>G	NP_001350597.1:p.Gln236=
NM_012461.3:c.813A>G	NP_036593.2:p.Gln271=
XM_011536642.2:c.*193A>G	XP_011534944.1:n.*193A>G
XM_017021216.2:c.171A>G	XP_016876705.1:p.Gln57=
XM_017021217.1:c.171A>G	XP_016876706.1:p.Gln57=
NM_001099274.3:c.813A>G MANE Select	NP_001092744.1:p.Gln271=
NM_001363668.2:c.708A>G	NP_001350597.1:p.Gln236=