Canonical Allele Identifier: CA389224204

Gene: TINF2

Linked Data

• dbSNP Id: rs1308095527
• gnomAD v3: 14-24240519-T-C
• gnomAD v4: 14-24240519-T-C
• MyVariant Identifiers: chr14:g.24709725T>C (hg19) ; chr14:g.24240519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240519T>C , CM000676.2:g.24240519T>C	GRCh38
NC_000014.8:g.24709725T>C , CM000676.1:g.24709725T>C	GRCh37
NC_000014.7:g.23779565T>C	NCBI36
NG_016650.1:g.7156A>G
NG_054634.1:g.13103T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1264A>G
ENST00000557921.3:c.853A>G	ENSP00000453157.3:p.Arg285Gly
ENST00000699682.1:n.1351A>G
ENST00000699683.1:n.1401A>G
ENST00000699684.1:c.*554A>G	ENSP00000514523.1:n.*554A>G
ENST00000699685.1:n.1165A>G
ENST00000699686.1:c.754A>G	ENSP00000514524.1:p.Arg252Gly
ENST00000699687.1:c.856A>G	ENSP00000514525.1:p.Arg286Gly
ENST00000699688.1:n.1161A>G
ENST00000699689.1:n.1517A>G
ENST00000699690.1:n.1714A>G
ENST00000699691.1:n.1858A>G
ENST00000699693.1:n.1378A>G
ENST00000699694.1:n.1620A>G
ENST00000699695.1:c.*333A>G	ENSP00000514526.1:n.*333A>G
ENST00000699696.1:n.1264A>G
ENST00000699697.1:c.961A>G	ENSP00000514527.1:p.Arg321Gly
ENST00000699698.1:n.882A>G
ENST00000699699.1:n.1285A>G
ENST00000699700.1:n.1408A>G
ENST00000699701.1:c.*341A>G	ENSP00000514528.1:n.*341A>G
ENST00000267415.12:c.961A>G MANE Select	ENSP00000267415.7:p.Arg321Gly
ENST00000557921.2:c.853A>G	ENSP00000453157.2:p.Arg285Gly
ENST00000646753.1:c.856A>G	ENSP00000494065.1:p.Arg286Gly
ENST00000267415.11:c.961A>G	ENSP00000267415.7:p.Arg321Gly
ENST00000399423.8:c.961A>G	ENSP00000382350.4:p.Arg321Gly
ENST00000557915.1:n.80A>G
ENST00000558566.1:c.*333A>G	ENSP00000453025.1:n.*333A>G
ENST00000559019.1:c.*333A>G	ENSP00000453675.1:n.*333A>G
ENST00000559969.5:c.758-39A>G
ENST00000626689.2:c.*333A>G	ENSP00000486681.1:n.*333A>G
NM_001099274.1:c.961A>G	NP_001092744.1:p.Arg321Gly
NM_012461.2:c.961A>G	NP_036593.2:p.Arg321Gly
XM_005267528.2:c.961A>G	XP_005267585.1:p.Arg321Gly
XM_005267529.2:c.856A>G	XP_005267586.1:p.Arg286Gly
NM_001099274.2:c.961A>G	NP_001092744.1:p.Arg321Gly
NM_001363668.1:c.856A>G	NP_001350597.1:p.Arg286Gly
NM_012461.3:c.961A>G	NP_036593.2:p.Arg321Gly
XM_011536642.2:c.*341A>G	XP_011534944.1:n.*341A>G
XM_017021216.2:c.319A>G	XP_016876705.1:p.Arg107Gly
XM_017021217.1:c.319A>G	XP_016876706.1:p.Arg107Gly
NM_001099274.3:c.961A>G MANE Select	NP_001092744.1:p.Arg321Gly
NM_001363668.2:c.856A>G	NP_001350597.1:p.Arg286Gly