Canonical Allele Identifier: CA2624345080

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240210-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240210G>A , CM000676.2:g.24240210G>A	GRCh38
NC_000014.8:g.24709416G>A , CM000676.1:g.24709416G>A	GRCh37
NC_000014.7:g.23779256G>A	NCBI36
NG_016650.1:g.7465C>T
NG_054634.1:g.12794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+53C>T
ENST00000557921.3:c.*205C>T	ENSP00000453157.3:n.*205C>T
ENST00000699682.1:n.1660C>T
ENST00000699683.1:n.1710C>T
ENST00000699684.1:c.*863C>T	ENSP00000514523.1:n.*863C>T
ENST00000699685.1:n.1474C>T
ENST00000699686.1:c.*205C>T	ENSP00000514524.1:n.*205C>T
ENST00000699687.1:c.*205C>T	ENSP00000514525.1:n.*205C>T
ENST00000699688.1:n.1470C>T
ENST00000699689.1:n.1826C>T
ENST00000699690.1:n.2023C>T
ENST00000699691.1:n.2167C>T
ENST00000699692.1:n.69-27C>T
ENST00000699693.1:n.1546+53C>T
ENST00000699694.1:n.1929C>T
ENST00000699695.1:c.*501+53C>T	ENSP00000514526.1:n.*501+53C>T
ENST00000699696.1:n.1520+53C>T
ENST00000699697.1:c.*45C>T	ENSP00000514527.1:n.*45C>T
ENST00000699698.1:n.1103C>T
ENST00000699699.1:n.1594C>T
ENST00000699700.1:n.1717C>T
ENST00000699701.1:c.*650C>T	ENSP00000514528.1:n.*650C>T
ENST00000267415.12:c.1129+53C>T MANE Select	ENSP00000267415.7:n.1129+53C>T
ENST00000646753.1:c.1024+53C>T	ENSP00000494065.1:n.1024+53C>T
ENST00000267415.11:c.1129+53C>T	ENSP00000267415.7:n.1129+53C>T
ENST00000399423.8:c.*205C>T	ENSP00000382350.4:n.*205C>T
ENST00000557915.1:n.336+53C>T
ENST00000558566.1:c.*642C>T	ENSP00000453025.1:n.*642C>T
ENST00000558703.1:n.33C>T
ENST00000559969.5:c.1028C>T
ENST00000560019.5:c.124+53C>T	ENSP00000453113.1:n.124+53C>T
ENST00000626689.2:c.*501+53C>T	ENSP00000486681.1:n.*501+53C>T
NM_001099274.1:c.1129+53C>T	NP_001092744.1:n.1129+53C>T
NM_012461.2:c.*205C>T	NP_036593.2:n.*205C>T
XM_005267528.2:c.1129+53C>T	XP_005267585.1:n.1129+53C>T
XM_005267529.2:c.1024+53C>T	XP_005267586.1:n.1024+53C>T
NM_001099274.2:c.1129+53C>T	NP_001092744.1:n.1129+53C>T
NM_001363668.1:c.1024+53C>T	NP_001350597.1:n.1024+53C>T
NM_012461.3:c.*205C>T	NP_036593.2:n.*205C>T
XM_011536642.2:c.*650C>T	XP_011534944.1:n.*650C>T
XM_017021216.2:c.487+53C>T	XP_016876705.1:n.487+53C>T
XM_017021217.1:c.487+53C>T	XP_016876706.1:n.487+53C>T
NM_001099274.3:c.1129+53C>T MANE Select	NP_001092744.1:n.1129+53C>T
NM_001363668.2:c.1024+53C>T	NP_001350597.1:n.1024+53C>T