Canonical Allele Identifier: CA961132825

Gene: TINF2

Linked Data

• dbSNP Id: rs2040541214
• gnomAD v3: 14-24240256-T-C
• gnomAD v4: 14-24240256-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240256T>C , CM000676.2:g.24240256T>C	GRCh38
NC_000014.8:g.24709462T>C , CM000676.1:g.24709462T>C	GRCh37
NC_000014.7:g.23779302T>C	NCBI36
NG_016650.1:g.7419A>G
NG_054634.1:g.12840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+7A>G
ENST00000557921.3:c.*159A>G	ENSP00000453157.3:n.*159A>G
ENST00000699682.1:n.1614A>G
ENST00000699683.1:n.1664A>G
ENST00000699684.1:c.*817A>G	ENSP00000514523.1:n.*817A>G
ENST00000699685.1:n.1428A>G
ENST00000699686.1:c.*159A>G	ENSP00000514524.1:n.*159A>G
ENST00000699687.1:c.*159A>G	ENSP00000514525.1:n.*159A>G
ENST00000699688.1:n.1424A>G
ENST00000699689.1:n.1780A>G
ENST00000699690.1:n.1977A>G
ENST00000699691.1:n.2121A>G
ENST00000699692.1:n.68+7A>G
ENST00000699693.1:n.1546+7A>G
ENST00000699694.1:n.1883A>G
ENST00000699695.1:c.*501+7A>G	ENSP00000514526.1:n.*501+7A>G
ENST00000699696.1:n.1520+7A>G
ENST00000699697.1:c.1136A>G	ENSP00000514527.1:p.Ter379Trp
ENST00000699698.1:n.1057A>G
ENST00000699699.1:n.1548A>G
ENST00000699700.1:n.1671A>G
ENST00000699701.1:c.*604A>G	ENSP00000514528.1:n.*604A>G
ENST00000267415.12:c.1129+7A>G MANE Select	ENSP00000267415.7:n.1129+7A>G
ENST00000646753.1:c.1024+7A>G	ENSP00000494065.1:n.1024+7A>G
ENST00000267415.11:c.1129+7A>G	ENSP00000267415.7:n.1129+7A>G
ENST00000399423.8:c.*159A>G	ENSP00000382350.4:n.*159A>G
ENST00000557915.1:n.336+7A>G
ENST00000558566.1:c.*596A>G	ENSP00000453025.1:n.*596A>G
ENST00000559969.5:c.982A>G
ENST00000560019.5:c.124+7A>G	ENSP00000453113.1:n.124+7A>G
ENST00000626689.2:c.*501+7A>G	ENSP00000486681.1:n.*501+7A>G
NM_001099274.1:c.1129+7A>G	NP_001092744.1:n.1129+7A>G
NM_012461.2:c.*159A>G	NP_036593.2:n.*159A>G
XM_005267528.2:c.1129+7A>G	XP_005267585.1:n.1129+7A>G
XM_005267529.2:c.1024+7A>G	XP_005267586.1:n.1024+7A>G
NM_001099274.2:c.1129+7A>G	NP_001092744.1:n.1129+7A>G
NM_001363668.1:c.1024+7A>G	NP_001350597.1:n.1024+7A>G
NM_012461.3:c.*159A>G	NP_036593.2:n.*159A>G
XM_011536642.2:c.*604A>G	XP_011534944.1:n.*604A>G
XM_017021216.2:c.487+7A>G	XP_016876705.1:n.487+7A>G
XM_017021217.1:c.487+7A>G	XP_016876706.1:n.487+7A>G
NM_001099274.3:c.1129+7A>G MANE Select	NP_001092744.1:n.1129+7A>G
NM_001363668.2:c.1024+7A>G	NP_001350597.1:n.1024+7A>G