Canonical Allele Identifier: CA389224130

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2914027
• ClinVar RCV Id: RCV003647154
• MyVariant Identifiers: chr14:g.24709718G>A (hg19) ; chr14:g.24240512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240512G>A , CM000676.2:g.24240512G>A	GRCh38
NC_000014.8:g.24709718G>A , CM000676.1:g.24709718G>A	GRCh37
NC_000014.7:g.23779558G>A	NCBI36
NG_016650.1:g.7163C>T
NG_054634.1:g.13096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1271C>T
ENST00000557921.3:c.860C>T	ENSP00000453157.3:p.Ala287Val
ENST00000699682.1:n.1358C>T
ENST00000699683.1:n.1408C>T
ENST00000699684.1:c.*561C>T	ENSP00000514523.1:n.*561C>T
ENST00000699685.1:n.1172C>T
ENST00000699686.1:c.761C>T	ENSP00000514524.1:p.Ala254Val
ENST00000699687.1:c.863C>T	ENSP00000514525.1:p.Ala288Val
ENST00000699688.1:n.1168C>T
ENST00000699689.1:n.1524C>T
ENST00000699690.1:n.1721C>T
ENST00000699691.1:n.1865C>T
ENST00000699693.1:n.1385C>T
ENST00000699694.1:n.1627C>T
ENST00000699695.1:c.*340C>T	ENSP00000514526.1:n.*340C>T
ENST00000699696.1:n.1271C>T
ENST00000699697.1:c.968C>T	ENSP00000514527.1:p.Ala323Val
ENST00000699698.1:n.889C>T
ENST00000699699.1:n.1292C>T
ENST00000699700.1:n.1415C>T
ENST00000699701.1:c.*348C>T	ENSP00000514528.1:n.*348C>T
ENST00000267415.12:c.968C>T MANE Select	ENSP00000267415.7:p.Ala323Val
ENST00000557921.2:c.860C>T	ENSP00000453157.2:p.Ala287Val
ENST00000646753.1:c.863C>T	ENSP00000494065.1:p.Ala288Val
ENST00000267415.11:c.968C>T	ENSP00000267415.7:p.Ala323Val
ENST00000399423.8:c.968C>T	ENSP00000382350.4:p.Ala323Val
ENST00000557915.1:n.87C>T
ENST00000558566.1:c.*340C>T	ENSP00000453025.1:n.*340C>T
ENST00000559019.1:c.*340C>T	ENSP00000453675.1:n.*340C>T
ENST00000559969.5:c.758-32C>T
ENST00000626689.2:c.*340C>T	ENSP00000486681.1:n.*340C>T
NM_001099274.1:c.968C>T	NP_001092744.1:p.Ala323Val
NM_012461.2:c.968C>T	NP_036593.2:p.Ala323Val
XM_005267528.2:c.968C>T	XP_005267585.1:p.Ala323Val
XM_005267529.2:c.863C>T	XP_005267586.1:p.Ala288Val
NM_001099274.2:c.968C>T	NP_001092744.1:p.Ala323Val
NM_001363668.1:c.863C>T	NP_001350597.1:p.Ala288Val
NM_012461.3:c.968C>T	NP_036593.2:p.Ala323Val
XM_011536642.2:c.*348C>T	XP_011534944.1:n.*348C>T
XM_017021216.2:c.326C>T	XP_016876705.1:p.Ala109Val
XM_017021217.1:c.326C>T	XP_016876706.1:p.Ala109Val
NM_001099274.3:c.968C>T MANE Select	NP_001092744.1:p.Ala323Val
NM_001363668.2:c.863C>T	NP_001350597.1:p.Ala288Val