Canonical Allele Identifier: CA389224626

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2725414
• ClinVar RCV Id: RCV003530797
• gnomAD v4: 14-24240553-A-C
• MyVariant Identifiers: chr14:g.24709759A>C (hg19) ; chr14:g.24240553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240553A>C , CM000676.2:g.24240553A>C	GRCh38
NC_000014.8:g.24709759A>C , CM000676.1:g.24709759A>C	GRCh37
NC_000014.7:g.23779599A>C	NCBI36
NG_016650.1:g.7122T>G
NG_054634.1:g.13137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1230T>G
ENST00000557921.3:c.819T>G	ENSP00000453157.3:p.His273Gln
ENST00000699682.1:n.1317T>G
ENST00000699683.1:n.1367T>G
ENST00000699684.1:c.*520T>G	ENSP00000514523.1:n.*520T>G
ENST00000699685.1:n.1131T>G
ENST00000699686.1:c.720T>G	ENSP00000514524.1:p.His240Gln
ENST00000699687.1:c.822T>G	ENSP00000514525.1:p.His274Gln
ENST00000699688.1:n.1127T>G
ENST00000699689.1:n.1483T>G
ENST00000699690.1:n.1680T>G
ENST00000699691.1:n.1824T>G
ENST00000699693.1:n.1344T>G
ENST00000699694.1:n.1586T>G
ENST00000699695.1:c.*299T>G	ENSP00000514526.1:n.*299T>G
ENST00000699696.1:n.1230T>G
ENST00000699697.1:c.927T>G	ENSP00000514527.1:p.His309Gln
ENST00000699698.1:n.848T>G
ENST00000699699.1:n.1251T>G
ENST00000699700.1:n.1374T>G
ENST00000699701.1:c.*307T>G	ENSP00000514528.1:n.*307T>G
ENST00000267415.12:c.927T>G MANE Select	ENSP00000267415.7:p.His309Gln
ENST00000557921.2:c.819T>G	ENSP00000453157.2:p.His273Gln
ENST00000646753.1:c.822T>G	ENSP00000494065.1:p.His274Gln
ENST00000267415.11:c.927T>G	ENSP00000267415.7:p.His309Gln
ENST00000399423.8:c.927T>G	ENSP00000382350.4:p.His309Gln
ENST00000557915.1:n.46T>G
ENST00000558566.1:c.*299T>G	ENSP00000453025.1:n.*299T>G
ENST00000559019.1:c.*299T>G	ENSP00000453675.1:n.*299T>G
ENST00000559969.5:c.758-73T>G
ENST00000626689.2:c.*299T>G	ENSP00000486681.1:n.*299T>G
NM_001099274.1:c.927T>G	NP_001092744.1:p.His309Gln
NM_012461.2:c.927T>G	NP_036593.2:p.His309Gln
XM_005267528.2:c.927T>G	XP_005267585.1:p.His309Gln
XM_005267529.2:c.822T>G	XP_005267586.1:p.His274Gln
NM_001099274.2:c.927T>G	NP_001092744.1:p.His309Gln
NM_001363668.1:c.822T>G	NP_001350597.1:p.His274Gln
NM_012461.3:c.927T>G	NP_036593.2:p.His309Gln
XM_011536642.2:c.*307T>G	XP_011534944.1:n.*307T>G
XM_017021216.2:c.285T>G	XP_016876705.1:p.His95Gln
XM_017021217.1:c.285T>G	XP_016876706.1:p.His95Gln
NM_001099274.3:c.927T>G MANE Select	NP_001092744.1:p.His309Gln
NM_001363668.2:c.822T>G	NP_001350597.1:p.His274Gln