Canonical Allele Identifier: CA2624345083

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240219-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240219C>G , CM000676.2:g.24240219C>G	GRCh38
NC_000014.8:g.24709425C>G , CM000676.1:g.24709425C>G	GRCh37
NC_000014.7:g.23779265C>G	NCBI36
NG_016650.1:g.7456G>C
NG_054634.1:g.12803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+44G>C
ENST00000557921.3:c.*196G>C	ENSP00000453157.3:n.*196G>C
ENST00000699682.1:n.1651G>C
ENST00000699683.1:n.1701G>C
ENST00000699684.1:c.*854G>C	ENSP00000514523.1:n.*854G>C
ENST00000699685.1:n.1465G>C
ENST00000699686.1:c.*196G>C	ENSP00000514524.1:n.*196G>C
ENST00000699687.1:c.*196G>C	ENSP00000514525.1:n.*196G>C
ENST00000699688.1:n.1461G>C
ENST00000699689.1:n.1817G>C
ENST00000699690.1:n.2014G>C
ENST00000699691.1:n.2158G>C
ENST00000699692.1:n.69-36G>C
ENST00000699693.1:n.1546+44G>C
ENST00000699694.1:n.1920G>C
ENST00000699695.1:c.*501+44G>C	ENSP00000514526.1:n.*501+44G>C
ENST00000699696.1:n.1520+44G>C
ENST00000699697.1:c.*36G>C	ENSP00000514527.1:n.*36G>C
ENST00000699698.1:n.1094G>C
ENST00000699699.1:n.1585G>C
ENST00000699700.1:n.1708G>C
ENST00000699701.1:c.*641G>C	ENSP00000514528.1:n.*641G>C
ENST00000267415.12:c.1129+44G>C MANE Select	ENSP00000267415.7:n.1129+44G>C
ENST00000646753.1:c.1024+44G>C	ENSP00000494065.1:n.1024+44G>C
ENST00000267415.11:c.1129+44G>C	ENSP00000267415.7:n.1129+44G>C
ENST00000399423.8:c.*196G>C	ENSP00000382350.4:n.*196G>C
ENST00000557915.1:n.336+44G>C
ENST00000558566.1:c.*633G>C	ENSP00000453025.1:n.*633G>C
ENST00000558703.1:n.24G>C
ENST00000559969.5:c.1019G>C
ENST00000560019.5:c.124+44G>C	ENSP00000453113.1:n.124+44G>C
ENST00000626689.2:c.*501+44G>C	ENSP00000486681.1:n.*501+44G>C
NM_001099274.1:c.1129+44G>C	NP_001092744.1:n.1129+44G>C
NM_012461.2:c.*196G>C	NP_036593.2:n.*196G>C
XM_005267528.2:c.1129+44G>C	XP_005267585.1:n.1129+44G>C
XM_005267529.2:c.1024+44G>C	XP_005267586.1:n.1024+44G>C
NM_001099274.2:c.1129+44G>C	NP_001092744.1:n.1129+44G>C
NM_001363668.1:c.1024+44G>C	NP_001350597.1:n.1024+44G>C
NM_012461.3:c.*196G>C	NP_036593.2:n.*196G>C
XM_011536642.2:c.*641G>C	XP_011534944.1:n.*641G>C
XM_017021216.2:c.487+44G>C	XP_016876705.1:n.487+44G>C
XM_017021217.1:c.487+44G>C	XP_016876706.1:n.487+44G>C
NM_001099274.3:c.1129+44G>C MANE Select	NP_001092744.1:n.1129+44G>C
NM_001363668.2:c.1024+44G>C	NP_001350597.1:n.1024+44G>C