Canonical Allele Identifier: CA389223305

Gene: TINF2

Linked Data

• ClinVar Variation Id: 827749
• ClinVar RCV Id: RCV001027638 ; RCV001862412
• dbSNP Id: rs1594550523
• MyVariant Identifiers: chr14:g.24709624C>A (hg19) ; chr14:g.24240418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240418C>A , CM000676.2:g.24240418C>A	GRCh38
NC_000014.8:g.24709624C>A , CM000676.1:g.24709624C>A	GRCh37
NC_000014.7:g.23779464C>A	NCBI36
NG_016650.1:g.7257G>T
NG_054634.1:g.13002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1365G>T
ENST00000557921.3:c.954G>T	ENSP00000453157.3:p.Glu318Asp
ENST00000699682.1:n.1452G>T
ENST00000699683.1:n.1502G>T
ENST00000699684.1:c.*655G>T	ENSP00000514523.1:n.*655G>T
ENST00000699685.1:n.1266G>T
ENST00000699686.1:c.855G>T	ENSP00000514524.1:p.Glu285Asp
ENST00000699687.1:c.957G>T	ENSP00000514525.1:p.Glu319Asp
ENST00000699688.1:n.1262G>T
ENST00000699689.1:n.1618G>T
ENST00000699690.1:n.1815G>T
ENST00000699691.1:n.1959G>T
ENST00000699693.1:n.1478+1G>T
ENST00000699694.1:n.1721G>T
ENST00000699695.1:c.*433+1G>T	ENSP00000514526.1:n.*433+1G>T
ENST00000699696.1:n.1365G>T
ENST00000699697.1:c.1061+1G>T	ENSP00000514527.1:n.1061+1G>T
ENST00000699698.1:n.982+1G>T
ENST00000699699.1:n.1386G>T
ENST00000699700.1:n.1509G>T
ENST00000699701.1:c.*442G>T	ENSP00000514528.1:n.*442G>T
ENST00000267415.12:c.1061+1G>T MANE Select	ENSP00000267415.7:n.1061+1G>T
ENST00000646753.1:c.956+1G>T	ENSP00000494065.1:n.956+1G>T
ENST00000267415.11:c.1061+1G>T	ENSP00000267415.7:n.1061+1G>T
ENST00000399423.8:c.1062G>T	ENSP00000382350.4:p.Glu354Asp
ENST00000557915.1:n.181G>T
ENST00000558566.1:c.*434G>T	ENSP00000453025.1:n.*434G>T
ENST00000559969.5:c.820G>T
ENST00000560019.5:c.56+1G>T	ENSP00000453113.1:n.56+1G>T
ENST00000626689.2:c.*433+1G>T	ENSP00000486681.1:n.*433+1G>T
NM_001099274.1:c.1061+1G>T	NP_001092744.1:n.1061+1G>T
NM_012461.2:c.1062G>T	NP_036593.2:p.Glu354Asp
XM_005267528.2:c.1061+1G>T	XP_005267585.1:n.1061+1G>T
XM_005267529.2:c.956+1G>T	XP_005267586.1:n.956+1G>T
NM_001099274.2:c.1061+1G>T	NP_001092744.1:n.1061+1G>T
NM_001363668.1:c.956+1G>T	NP_001350597.1:n.956+1G>T
NM_012461.3:c.1062G>T	NP_036593.2:p.Glu354Asp
XM_011536642.2:c.*442G>T	XP_011534944.1:n.*442G>T
XM_017021216.2:c.419+1G>T	XP_016876705.1:n.419+1G>T
XM_017021217.1:c.419+1G>T	XP_016876706.1:n.419+1G>T
NM_001099274.3:c.1061+1G>T MANE Select	NP_001092744.1:n.1061+1G>T
NM_001363668.2:c.956+1G>T	NP_001350597.1:n.956+1G>T