Canonical Allele Identifier: CA389224592

Gene: TINF2

Linked Data

• ClinVar Variation Id: 854428
• ClinVar RCV Id: RCV001059482
• dbSNP Id: rs2040550859
• gnomAD v4: 14-24240551-G-A
• MyVariant Identifiers: chr14:g.24709757G>A (hg19) ; chr14:g.24240551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240551G>A , CM000676.2:g.24240551G>A	GRCh38
NC_000014.8:g.24709757G>A , CM000676.1:g.24709757G>A	GRCh37
NC_000014.7:g.23779597G>A	NCBI36
NG_016650.1:g.7124C>T
NG_054634.1:g.13135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1232C>T
ENST00000557921.3:c.821C>T	ENSP00000453157.3:p.Ala274Val
ENST00000699682.1:n.1319C>T
ENST00000699683.1:n.1369C>T
ENST00000699684.1:c.*522C>T	ENSP00000514523.1:n.*522C>T
ENST00000699685.1:n.1133C>T
ENST00000699686.1:c.722C>T	ENSP00000514524.1:p.Ala241Val
ENST00000699687.1:c.824C>T	ENSP00000514525.1:p.Ala275Val
ENST00000699688.1:n.1129C>T
ENST00000699689.1:n.1485C>T
ENST00000699690.1:n.1682C>T
ENST00000699691.1:n.1826C>T
ENST00000699693.1:n.1346C>T
ENST00000699694.1:n.1588C>T
ENST00000699695.1:c.*301C>T	ENSP00000514526.1:n.*301C>T
ENST00000699696.1:n.1232C>T
ENST00000699697.1:c.929C>T	ENSP00000514527.1:p.Ala310Val
ENST00000699698.1:n.850C>T
ENST00000699699.1:n.1253C>T
ENST00000699700.1:n.1376C>T
ENST00000699701.1:c.*309C>T	ENSP00000514528.1:n.*309C>T
ENST00000267415.12:c.929C>T MANE Select	ENSP00000267415.7:p.Ala310Val
ENST00000557921.2:c.821C>T	ENSP00000453157.2:p.Ala274Val
ENST00000646753.1:c.824C>T	ENSP00000494065.1:p.Ala275Val
ENST00000267415.11:c.929C>T	ENSP00000267415.7:p.Ala310Val
ENST00000399423.8:c.929C>T	ENSP00000382350.4:p.Ala310Val
ENST00000557915.1:n.48C>T
ENST00000558566.1:c.*301C>T	ENSP00000453025.1:n.*301C>T
ENST00000559019.1:c.*301C>T	ENSP00000453675.1:n.*301C>T
ENST00000559969.5:c.758-71C>T
ENST00000626689.2:c.*301C>T	ENSP00000486681.1:n.*301C>T
NM_001099274.1:c.929C>T	NP_001092744.1:p.Ala310Val
NM_012461.2:c.929C>T	NP_036593.2:p.Ala310Val
XM_005267528.2:c.929C>T	XP_005267585.1:p.Ala310Val
XM_005267529.2:c.824C>T	XP_005267586.1:p.Ala275Val
NM_001099274.2:c.929C>T	NP_001092744.1:p.Ala310Val
NM_001363668.1:c.824C>T	NP_001350597.1:p.Ala275Val
NM_012461.3:c.929C>T	NP_036593.2:p.Ala310Val
XM_011536642.2:c.*309C>T	XP_011534944.1:n.*309C>T
XM_017021216.2:c.287C>T	XP_016876705.1:p.Ala96Val
XM_017021217.1:c.287C>T	XP_016876706.1:p.Ala96Val
NM_001099274.3:c.929C>T MANE Select	NP_001092744.1:p.Ala310Val
NM_001363668.2:c.824C>T	NP_001350597.1:p.Ala275Val