Canonical Allele Identifier: CA961132822

Gene: TINF2

Linked Data

• dbSNP Id: rs2040540124
• gnomAD v3: 14-24240220-A-G
• gnomAD v4: 14-24240220-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240220A>G , CM000676.2:g.24240220A>G	GRCh38
NC_000014.8:g.24709426A>G , CM000676.1:g.24709426A>G	GRCh37
NC_000014.7:g.23779266A>G	NCBI36
NG_016650.1:g.7455T>C
NG_054634.1:g.12804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+43T>C
ENST00000557921.3:c.*195T>C	ENSP00000453157.3:n.*195T>C
ENST00000699682.1:n.1650T>C
ENST00000699683.1:n.1700T>C
ENST00000699684.1:c.*853T>C	ENSP00000514523.1:n.*853T>C
ENST00000699685.1:n.1464T>C
ENST00000699686.1:c.*195T>C	ENSP00000514524.1:n.*195T>C
ENST00000699687.1:c.*195T>C	ENSP00000514525.1:n.*195T>C
ENST00000699688.1:n.1460T>C
ENST00000699689.1:n.1816T>C
ENST00000699690.1:n.2013T>C
ENST00000699691.1:n.2157T>C
ENST00000699692.1:n.69-37T>C
ENST00000699693.1:n.1546+43T>C
ENST00000699694.1:n.1919T>C
ENST00000699695.1:c.*501+43T>C	ENSP00000514526.1:n.*501+43T>C
ENST00000699696.1:n.1520+43T>C
ENST00000699697.1:c.*35T>C	ENSP00000514527.1:n.*35T>C
ENST00000699698.1:n.1093T>C
ENST00000699699.1:n.1584T>C
ENST00000699700.1:n.1707T>C
ENST00000699701.1:c.*640T>C	ENSP00000514528.1:n.*640T>C
ENST00000267415.12:c.1129+43T>C MANE Select	ENSP00000267415.7:n.1129+43T>C
ENST00000646753.1:c.1024+43T>C	ENSP00000494065.1:n.1024+43T>C
ENST00000267415.11:c.1129+43T>C	ENSP00000267415.7:n.1129+43T>C
ENST00000399423.8:c.*195T>C	ENSP00000382350.4:n.*195T>C
ENST00000557915.1:n.336+43T>C
ENST00000558566.1:c.*632T>C	ENSP00000453025.1:n.*632T>C
ENST00000558703.1:n.23T>C
ENST00000559969.5:c.1018T>C
ENST00000560019.5:c.124+43T>C	ENSP00000453113.1:n.124+43T>C
ENST00000626689.2:c.*501+43T>C	ENSP00000486681.1:n.*501+43T>C
NM_001099274.1:c.1129+43T>C	NP_001092744.1:n.1129+43T>C
NM_012461.2:c.*195T>C	NP_036593.2:n.*195T>C
XM_005267528.2:c.1129+43T>C	XP_005267585.1:n.1129+43T>C
XM_005267529.2:c.1024+43T>C	XP_005267586.1:n.1024+43T>C
NM_001099274.2:c.1129+43T>C	NP_001092744.1:n.1129+43T>C
NM_001363668.1:c.1024+43T>C	NP_001350597.1:n.1024+43T>C
NM_012461.3:c.*195T>C	NP_036593.2:n.*195T>C
XM_011536642.2:c.*640T>C	XP_011534944.1:n.*640T>C
XM_017021216.2:c.487+43T>C	XP_016876705.1:n.487+43T>C
XM_017021217.1:c.487+43T>C	XP_016876706.1:n.487+43T>C
NM_001099274.3:c.1129+43T>C MANE Select	NP_001092744.1:n.1129+43T>C
NM_001363668.2:c.1024+43T>C	NP_001350597.1:n.1024+43T>C