Canonical Allele Identifier: CA2123849051

Gene: TINF2

Linked Data

• dbSNP Id: rs2040544794

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240372C>G , CM000676.2:g.24240372C>G	GRCh38
NC_000014.8:g.24709578C>G , CM000676.1:g.24709578C>G	GRCh37
NC_000014.7:g.23779418C>G	NCBI36
NG_016650.1:g.7303G>C
NG_054634.1:g.12956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1411G>C
ENST00000557921.3:c.*43G>C	ENSP00000453157.3:n.*43G>C
ENST00000699682.1:n.1498G>C
ENST00000699683.1:n.1548G>C
ENST00000699684.1:c.*701G>C	ENSP00000514523.1:n.*701G>C
ENST00000699685.1:n.1312G>C
ENST00000699686.1:c.*43G>C	ENSP00000514524.1:n.*43G>C
ENST00000699687.1:c.*43G>C	ENSP00000514525.1:n.*43G>C
ENST00000699688.1:n.1308G>C
ENST00000699689.1:n.1664G>C
ENST00000699690.1:n.1861G>C
ENST00000699691.1:n.2005G>C
ENST00000699693.1:n.1479-42G>C
ENST00000699694.1:n.1767G>C
ENST00000699695.1:c.*434-42G>C	ENSP00000514526.1:n.*434-42G>C
ENST00000699696.1:n.1411G>C
ENST00000699697.1:c.1062-42G>C	ENSP00000514527.1:n.1062-42G>C
ENST00000699698.1:n.983-42G>C
ENST00000699699.1:n.1432G>C
ENST00000699700.1:n.1555G>C
ENST00000699701.1:c.*488G>C	ENSP00000514528.1:n.*488G>C
ENST00000267415.12:c.1062-42G>C MANE Select	ENSP00000267415.7:n.1062-42G>C
ENST00000646753.1:c.957-42G>C	ENSP00000494065.1:n.957-42G>C
ENST00000267415.11:c.1062-42G>C	ENSP00000267415.7:n.1062-42G>C
ENST00000399423.8:c.*43G>C	ENSP00000382350.4:n.*43G>C
ENST00000557915.1:n.227G>C
ENST00000558566.1:c.*480G>C	ENSP00000453025.1:n.*480G>C
ENST00000559969.5:c.866G>C
ENST00000560019.5:c.57-42G>C	ENSP00000453113.1:n.57-42G>C
ENST00000626689.2:c.*434-42G>C	ENSP00000486681.1:n.*434-42G>C
NM_001099274.1:c.1062-42G>C	NP_001092744.1:n.1062-42G>C
NM_012461.2:c.*43G>C	NP_036593.2:n.*43G>C
XM_005267528.2:c.1062-42G>C	XP_005267585.1:n.1062-42G>C
XM_005267529.2:c.957-42G>C	XP_005267586.1:n.957-42G>C
NM_001099274.2:c.1062-42G>C	NP_001092744.1:n.1062-42G>C
NM_001363668.1:c.957-42G>C	NP_001350597.1:n.957-42G>C
NM_012461.3:c.*43G>C	NP_036593.2:n.*43G>C
XM_011536642.2:c.*488G>C	XP_011534944.1:n.*488G>C
XM_017021216.2:c.420-42G>C	XP_016876705.1:n.420-42G>C
XM_017021217.1:c.420-42G>C	XP_016876706.1:n.420-42G>C
NM_001099274.3:c.1062-42G>C MANE Select	NP_001092744.1:n.1062-42G>C
NM_001363668.2:c.957-42G>C	NP_001350597.1:n.957-42G>C