Canonical Allele Identifier: CA485782187

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1451921
• ClinVar RCV Id: RCV001993380
• dbSNP Id: rs1295609085
• gnomAD v2: 14-24709654-T-C
• gnomAD v4: 14-24240448-T-C
• MyVariant Identifiers: chr14:g.24709654T>C (hg19) ; chr14:g.24240448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240448T>C , CM000676.2:g.24240448T>C	GRCh38
NC_000014.8:g.24709654T>C , CM000676.1:g.24709654T>C	GRCh37
NC_000014.7:g.23779494T>C	NCBI36
NG_016650.1:g.7227A>G
NG_054634.1:g.13032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1335A>G
ENST00000557921.3:c.924A>G	ENSP00000453157.3:p.Pro308=
ENST00000699682.1:n.1422A>G
ENST00000699683.1:n.1472A>G
ENST00000699684.1:c.*625A>G	ENSP00000514523.1:n.*625A>G
ENST00000699685.1:n.1236A>G
ENST00000699686.1:c.825A>G	ENSP00000514524.1:p.Pro275=
ENST00000699687.1:c.927A>G	ENSP00000514525.1:p.Pro309=
ENST00000699688.1:n.1232A>G
ENST00000699689.1:n.1588A>G
ENST00000699690.1:n.1785A>G
ENST00000699691.1:n.1929A>G
ENST00000699693.1:n.1449A>G
ENST00000699694.1:n.1691A>G
ENST00000699695.1:c.*404A>G	ENSP00000514526.1:n.*404A>G
ENST00000699696.1:n.1335A>G
ENST00000699697.1:c.1032A>G	ENSP00000514527.1:p.Pro344=
ENST00000699698.1:n.953A>G
ENST00000699699.1:n.1356A>G
ENST00000699700.1:n.1479A>G
ENST00000699701.1:c.*412A>G	ENSP00000514528.1:n.*412A>G
ENST00000267415.12:c.1032A>G MANE Select	ENSP00000267415.7:p.Pro344=
ENST00000646753.1:c.927A>G	ENSP00000494065.1:p.Pro309=
ENST00000267415.11:c.1032A>G	ENSP00000267415.7:p.Pro344=
ENST00000399423.8:c.1032A>G	ENSP00000382350.4:p.Pro344=
ENST00000557915.1:n.151A>G
ENST00000558566.1:c.*404A>G	ENSP00000453025.1:n.*404A>G
ENST00000559969.5:c.790A>G
ENST00000560019.5:c.27A>G	ENSP00000453113.1:p.Pro9=
ENST00000626689.2:c.*404A>G	ENSP00000486681.1:n.*404A>G
NM_001099274.1:c.1032A>G	NP_001092744.1:p.Pro344=
NM_012461.2:c.1032A>G	NP_036593.2:p.Pro344=
XM_005267528.2:c.1032A>G	XP_005267585.1:p.Pro344=
XM_005267529.2:c.927A>G	XP_005267586.1:p.Pro309=
NM_001099274.2:c.1032A>G	NP_001092744.1:p.Pro344=
NM_001363668.1:c.927A>G	NP_001350597.1:p.Pro309=
NM_012461.3:c.1032A>G	NP_036593.2:p.Pro344=
XM_011536642.2:c.*412A>G	XP_011534944.1:n.*412A>G
XM_017021216.2:c.390A>G	XP_016876705.1:p.Pro130=
XM_017021217.1:c.390A>G	XP_016876706.1:p.Pro130=
NM_001099274.3:c.1032A>G MANE Select	NP_001092744.1:p.Pro344=
NM_001363668.2:c.927A>G	NP_001350597.1:p.Pro309=