Canonical Allele Identifier: CA2624345201

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240404-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240404C>G , CM000676.2:g.24240404C>G	GRCh38
NC_000014.8:g.24709610C>G , CM000676.1:g.24709610C>G	GRCh37
NC_000014.7:g.23779450C>G	NCBI36
NG_016650.1:g.7271G>C
NG_054634.1:g.12988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1379G>C
ENST00000557921.3:c.*11G>C	ENSP00000453157.3:n.*11G>C
ENST00000699682.1:n.1466G>C
ENST00000699683.1:n.1516G>C
ENST00000699684.1:c.*669G>C	ENSP00000514523.1:n.*669G>C
ENST00000699685.1:n.1280G>C
ENST00000699686.1:c.*11G>C	ENSP00000514524.1:n.*11G>C
ENST00000699687.1:c.*11G>C	ENSP00000514525.1:n.*11G>C
ENST00000699688.1:n.1276G>C
ENST00000699689.1:n.1632G>C
ENST00000699690.1:n.1829G>C
ENST00000699691.1:n.1973G>C
ENST00000699693.1:n.1478+15G>C
ENST00000699694.1:n.1735G>C
ENST00000699695.1:c.*433+15G>C	ENSP00000514526.1:n.*433+15G>C
ENST00000699696.1:n.1379G>C
ENST00000699697.1:c.1061+15G>C	ENSP00000514527.1:n.1061+15G>C
ENST00000699698.1:n.982+15G>C
ENST00000699699.1:n.1400G>C
ENST00000699700.1:n.1523G>C
ENST00000699701.1:c.*456G>C	ENSP00000514528.1:n.*456G>C
ENST00000267415.12:c.1061+15G>C MANE Select	ENSP00000267415.7:n.1061+15G>C
ENST00000646753.1:c.956+15G>C	ENSP00000494065.1:n.956+15G>C
ENST00000267415.11:c.1061+15G>C	ENSP00000267415.7:n.1061+15G>C
ENST00000399423.8:c.*11G>C	ENSP00000382350.4:n.*11G>C
ENST00000557915.1:n.195G>C
ENST00000558566.1:c.*448G>C	ENSP00000453025.1:n.*448G>C
ENST00000559969.5:c.834G>C
ENST00000560019.5:c.56+15G>C	ENSP00000453113.1:n.56+15G>C
ENST00000626689.2:c.*433+15G>C	ENSP00000486681.1:n.*433+15G>C
NM_001099274.1:c.1061+15G>C	NP_001092744.1:n.1061+15G>C
NM_012461.2:c.*11G>C	NP_036593.2:n.*11G>C
XM_005267528.2:c.1061+15G>C	XP_005267585.1:n.1061+15G>C
XM_005267529.2:c.956+15G>C	XP_005267586.1:n.956+15G>C
NM_001099274.2:c.1061+15G>C	NP_001092744.1:n.1061+15G>C
NM_001363668.1:c.956+15G>C	NP_001350597.1:n.956+15G>C
NM_012461.3:c.*11G>C	NP_036593.2:n.*11G>C
XM_011536642.2:c.*456G>C	XP_011534944.1:n.*456G>C
XM_017021216.2:c.419+15G>C	XP_016876705.1:n.419+15G>C
XM_017021217.1:c.419+15G>C	XP_016876706.1:n.419+15G>C
NM_001099274.3:c.1061+15G>C MANE Select	NP_001092744.1:n.1061+15G>C
NM_001363668.2:c.956+15G>C	NP_001350597.1:n.956+15G>C