Canonical Allele Identifier: CA2575493628

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240416-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240416C>T , CM000676.2:g.24240416C>T	GRCh38
NC_000014.8:g.24709622C>T , CM000676.1:g.24709622C>T	GRCh37
NC_000014.7:g.23779462C>T	NCBI36
NG_016650.1:g.7259G>A
NG_054634.1:g.13000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1367G>A
ENST00000557921.3:c.956G>A	ENSP00000453157.3:p.Ter319=
ENST00000699682.1:n.1454G>A
ENST00000699683.1:n.1504G>A
ENST00000699684.1:c.*657G>A	ENSP00000514523.1:n.*657G>A
ENST00000699685.1:n.1268G>A
ENST00000699686.1:c.857G>A	ENSP00000514524.1:p.Ter286=
ENST00000699687.1:c.959G>A	ENSP00000514525.1:p.Ter320=
ENST00000699688.1:n.1264G>A
ENST00000699689.1:n.1620G>A
ENST00000699690.1:n.1817G>A
ENST00000699691.1:n.1961G>A
ENST00000699693.1:n.1478+3G>A
ENST00000699694.1:n.1723G>A
ENST00000699695.1:c.*433+3G>A	ENSP00000514526.1:n.*433+3G>A
ENST00000699696.1:n.1367G>A
ENST00000699697.1:c.1061+3G>A	ENSP00000514527.1:n.1061+3G>A
ENST00000699698.1:n.982+3G>A
ENST00000699699.1:n.1388G>A
ENST00000699700.1:n.1511G>A
ENST00000699701.1:c.*444G>A	ENSP00000514528.1:n.*444G>A
ENST00000267415.12:c.1061+3G>A MANE Select	ENSP00000267415.7:n.1061+3G>A
ENST00000646753.1:c.956+3G>A	ENSP00000494065.1:n.956+3G>A
ENST00000267415.11:c.1061+3G>A	ENSP00000267415.7:n.1061+3G>A
ENST00000399423.8:c.1064G>A	ENSP00000382350.4:p.Ter355=
ENST00000557915.1:n.183G>A
ENST00000558566.1:c.*436G>A	ENSP00000453025.1:n.*436G>A
ENST00000559969.5:c.822G>A
ENST00000560019.5:c.56+3G>A	ENSP00000453113.1:n.56+3G>A
ENST00000626689.2:c.*433+3G>A	ENSP00000486681.1:n.*433+3G>A
NM_001099274.1:c.1061+3G>A	NP_001092744.1:n.1061+3G>A
NM_012461.2:c.1064G>A	NP_036593.2:p.Ter355=
XM_005267528.2:c.1061+3G>A	XP_005267585.1:n.1061+3G>A
XM_005267529.2:c.956+3G>A	XP_005267586.1:n.956+3G>A
NM_001099274.2:c.1061+3G>A	NP_001092744.1:n.1061+3G>A
NM_001363668.1:c.956+3G>A	NP_001350597.1:n.956+3G>A
NM_012461.3:c.1064G>A	NP_036593.2:p.Ter355=
XM_011536642.2:c.*444G>A	XP_011534944.1:n.*444G>A
XM_017021216.2:c.419+3G>A	XP_016876705.1:n.419+3G>A
XM_017021217.1:c.419+3G>A	XP_016876706.1:n.419+3G>A
NM_001099274.3:c.1061+3G>A MANE Select	NP_001092744.1:n.1061+3G>A
NM_001363668.2:c.956+3G>A	NP_001350597.1:n.956+3G>A