Canonical Allele Identifier: CA2624345069

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240175-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240175A>C , CM000676.2:g.24240175A>C	GRCh38
NC_000014.8:g.24709381A>C , CM000676.1:g.24709381A>C	GRCh37
NC_000014.7:g.23779221A>C	NCBI36
NG_016650.1:g.7500T>G
NG_054634.1:g.12759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-20T>G
ENST00000557921.3:c.*240T>G	ENSP00000453157.3:n.*240T>G
ENST00000699682.1:n.1695T>G
ENST00000699683.1:n.1745T>G
ENST00000699684.1:c.*898T>G	ENSP00000514523.1:n.*898T>G
ENST00000699685.1:n.1509T>G
ENST00000699686.1:c.*240T>G	ENSP00000514524.1:n.*240T>G
ENST00000699687.1:c.*240T>G	ENSP00000514525.1:n.*240T>G
ENST00000699688.1:n.1505T>G
ENST00000699689.1:n.1861T>G
ENST00000699690.1:n.2058T>G
ENST00000699691.1:n.2202T>G
ENST00000699692.1:n.77T>G
ENST00000699693.1:n.1547-20T>G
ENST00000699694.1:n.1964T>G
ENST00000699695.1:c.*502-20T>G	ENSP00000514526.1:n.*502-20T>G
ENST00000699696.1:n.1521-20T>G
ENST00000699697.1:c.*80T>G	ENSP00000514527.1:n.*80T>G
ENST00000699698.1:n.1138T>G
ENST00000699699.1:n.1629T>G
ENST00000699700.1:n.1752T>G
ENST00000699701.1:c.*685T>G	ENSP00000514528.1:n.*685T>G
ENST00000267415.12:c.1130-20T>G MANE Select	ENSP00000267415.7:n.1130-20T>G
ENST00000646753.1:c.1025-20T>G	ENSP00000494065.1:n.1025-20T>G
ENST00000267415.11:c.1130-20T>G	ENSP00000267415.7:n.1130-20T>G
ENST00000399423.8:c.*240T>G	ENSP00000382350.4:n.*240T>G
ENST00000557915.1:n.337-20T>G
ENST00000558566.1:c.*677T>G	ENSP00000453025.1:n.*677T>G
ENST00000558703.1:n.68T>G
ENST00000559969.5:c.1063T>G
ENST00000560019.5:c.125-20T>G	ENSP00000453113.1:n.125-20T>G
ENST00000626689.2:c.*502-20T>G	ENSP00000486681.1:n.*502-20T>G
NM_001099274.1:c.1130-20T>G	NP_001092744.1:n.1130-20T>G
NM_012461.2:c.*240T>G	NP_036593.2:n.*240T>G
XM_005267528.2:c.1130-20T>G	XP_005267585.1:n.1130-20T>G
XM_005267529.2:c.1025-20T>G	XP_005267586.1:n.1025-20T>G
NM_001099274.2:c.1130-20T>G	NP_001092744.1:n.1130-20T>G
NM_001363668.1:c.1025-20T>G	NP_001350597.1:n.1025-20T>G
NM_012461.3:c.*240T>G	NP_036593.2:n.*240T>G
XM_011536642.2:c.*685T>G	XP_011534944.1:n.*685T>G
XM_017021216.2:c.488-20T>G	XP_016876705.1:n.488-20T>G
XM_017021217.1:c.488-20T>G	XP_016876706.1:n.488-20T>G
NM_001099274.3:c.1130-20T>G MANE Select	NP_001092744.1:n.1130-20T>G
NM_001363668.2:c.1025-20T>G	NP_001350597.1:n.1025-20T>G