Canonical Allele Identifier: CA2123848623

Gene: TINF2

Linked Data

• dbSNP Id: rs2040538429
• gnomAD v4: 14-24240172-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240172A>G , CM000676.2:g.24240172A>G	GRCh38
NC_000014.8:g.24709378A>G , CM000676.1:g.24709378A>G	GRCh37
NC_000014.7:g.23779218A>G	NCBI36
NG_016650.1:g.7503T>C
NG_054634.1:g.12756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-17T>C
ENST00000557921.3:c.*243T>C	ENSP00000453157.3:n.*243T>C
ENST00000699682.1:n.1698T>C
ENST00000699683.1:n.1748T>C
ENST00000699684.1:c.*901T>C	ENSP00000514523.1:n.*901T>C
ENST00000699685.1:n.1512T>C
ENST00000699686.1:c.*243T>C	ENSP00000514524.1:n.*243T>C
ENST00000699687.1:c.*243T>C	ENSP00000514525.1:n.*243T>C
ENST00000699688.1:n.1508T>C
ENST00000699689.1:n.1864T>C
ENST00000699690.1:n.2061T>C
ENST00000699691.1:n.2205T>C
ENST00000699692.1:n.80T>C
ENST00000699693.1:n.1547-17T>C
ENST00000699694.1:n.1967T>C
ENST00000699695.1:c.*502-17T>C	ENSP00000514526.1:n.*502-17T>C
ENST00000699696.1:n.1521-17T>C
ENST00000699697.1:c.*83T>C	ENSP00000514527.1:n.*83T>C
ENST00000699698.1:n.1141T>C
ENST00000699699.1:n.1632T>C
ENST00000699700.1:n.1755T>C
ENST00000699701.1:c.*688T>C	ENSP00000514528.1:n.*688T>C
ENST00000267415.12:c.1130-17T>C MANE Select	ENSP00000267415.7:n.1130-17T>C
ENST00000646753.1:c.1025-17T>C	ENSP00000494065.1:n.1025-17T>C
ENST00000267415.11:c.1130-17T>C	ENSP00000267415.7:n.1130-17T>C
ENST00000399423.8:c.*243T>C	ENSP00000382350.4:n.*243T>C
ENST00000557915.1:n.337-17T>C
ENST00000558566.1:c.*680T>C	ENSP00000453025.1:n.*680T>C
ENST00000558703.1:n.71T>C
ENST00000559969.5:c.1066T>C
ENST00000560019.5:c.125-17T>C	ENSP00000453113.1:n.125-17T>C
ENST00000626689.2:c.*502-17T>C	ENSP00000486681.1:n.*502-17T>C
NM_001099274.1:c.1130-17T>C	NP_001092744.1:n.1130-17T>C
NM_012461.2:c.*243T>C	NP_036593.2:n.*243T>C
XM_005267528.2:c.1130-17T>C	XP_005267585.1:n.1130-17T>C
XM_005267529.2:c.1025-17T>C	XP_005267586.1:n.1025-17T>C
NM_001099274.2:c.1130-17T>C	NP_001092744.1:n.1130-17T>C
NM_001363668.1:c.1025-17T>C	NP_001350597.1:n.1025-17T>C
NM_012461.3:c.*243T>C	NP_036593.2:n.*243T>C
XM_011536642.2:c.*688T>C	XP_011534944.1:n.*688T>C
XM_017021216.2:c.488-17T>C	XP_016876705.1:n.488-17T>C
XM_017021217.1:c.488-17T>C	XP_016876706.1:n.488-17T>C
NM_001099274.3:c.1130-17T>C MANE Select	NP_001092744.1:n.1130-17T>C
NM_001363668.2:c.1025-17T>C	NP_001350597.1:n.1025-17T>C