Canonical Allele Identifier: CA2624345082

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240216-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240216C>T , CM000676.2:g.24240216C>T	GRCh38
NC_000014.8:g.24709422C>T , CM000676.1:g.24709422C>T	GRCh37
NC_000014.7:g.23779262C>T	NCBI36
NG_016650.1:g.7459G>A
NG_054634.1:g.12800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+47G>A
ENST00000557921.3:c.*199G>A	ENSP00000453157.3:n.*199G>A
ENST00000699682.1:n.1654G>A
ENST00000699683.1:n.1704G>A
ENST00000699684.1:c.*857G>A	ENSP00000514523.1:n.*857G>A
ENST00000699685.1:n.1468G>A
ENST00000699686.1:c.*199G>A	ENSP00000514524.1:n.*199G>A
ENST00000699687.1:c.*199G>A	ENSP00000514525.1:n.*199G>A
ENST00000699688.1:n.1464G>A
ENST00000699689.1:n.1820G>A
ENST00000699690.1:n.2017G>A
ENST00000699691.1:n.2161G>A
ENST00000699692.1:n.69-33G>A
ENST00000699693.1:n.1546+47G>A
ENST00000699694.1:n.1923G>A
ENST00000699695.1:c.*501+47G>A	ENSP00000514526.1:n.*501+47G>A
ENST00000699696.1:n.1520+47G>A
ENST00000699697.1:c.*39G>A	ENSP00000514527.1:n.*39G>A
ENST00000699698.1:n.1097G>A
ENST00000699699.1:n.1588G>A
ENST00000699700.1:n.1711G>A
ENST00000699701.1:c.*644G>A	ENSP00000514528.1:n.*644G>A
ENST00000267415.12:c.1129+47G>A MANE Select	ENSP00000267415.7:n.1129+47G>A
ENST00000646753.1:c.1024+47G>A	ENSP00000494065.1:n.1024+47G>A
ENST00000267415.11:c.1129+47G>A	ENSP00000267415.7:n.1129+47G>A
ENST00000399423.8:c.*199G>A	ENSP00000382350.4:n.*199G>A
ENST00000557915.1:n.336+47G>A
ENST00000558566.1:c.*636G>A	ENSP00000453025.1:n.*636G>A
ENST00000558703.1:n.27G>A
ENST00000559969.5:c.1022G>A
ENST00000560019.5:c.124+47G>A	ENSP00000453113.1:n.124+47G>A
ENST00000626689.2:c.*501+47G>A	ENSP00000486681.1:n.*501+47G>A
NM_001099274.1:c.1129+47G>A	NP_001092744.1:n.1129+47G>A
NM_012461.2:c.*199G>A	NP_036593.2:n.*199G>A
XM_005267528.2:c.1129+47G>A	XP_005267585.1:n.1129+47G>A
XM_005267529.2:c.1024+47G>A	XP_005267586.1:n.1024+47G>A
NM_001099274.2:c.1129+47G>A	NP_001092744.1:n.1129+47G>A
NM_001363668.1:c.1024+47G>A	NP_001350597.1:n.1024+47G>A
NM_012461.3:c.*199G>A	NP_036593.2:n.*199G>A
XM_011536642.2:c.*644G>A	XP_011534944.1:n.*644G>A
XM_017021216.2:c.487+47G>A	XP_016876705.1:n.487+47G>A
XM_017021217.1:c.487+47G>A	XP_016876706.1:n.487+47G>A
NM_001099274.3:c.1129+47G>A MANE Select	NP_001092744.1:n.1129+47G>A
NM_001363668.2:c.1024+47G>A	NP_001350597.1:n.1024+47G>A