Canonical Allele Identifier: CA389226692

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1720294
• ClinVar RCV Id: RCV002298069
• MyVariant Identifiers: chr14:g.24709935C>G (hg19) ; chr14:g.24240729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240729C>G , CM000676.2:g.24240729C>G	GRCh38
NC_000014.8:g.24709935C>G , CM000676.1:g.24709935C>G	GRCh37
NC_000014.7:g.23779775C>G	NCBI36
NG_016650.1:g.6946G>C
NG_054634.1:g.13313C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1054G>C
ENST00000557921.3:c.643G>C	ENSP00000453157.3:p.Glu215Gln
ENST00000699682.1:n.1141G>C
ENST00000699683.1:n.1191G>C
ENST00000699684.1:c.*344G>C	ENSP00000514523.1:n.*344G>C
ENST00000699685.1:n.955G>C
ENST00000699686.1:c.544G>C	ENSP00000514524.1:p.Glu182Gln
ENST00000699687.1:c.646G>C	ENSP00000514525.1:p.Glu216Gln
ENST00000699688.1:n.951G>C
ENST00000699689.1:n.1307G>C
ENST00000699690.1:n.1504G>C
ENST00000699691.1:n.1648G>C
ENST00000699693.1:n.1168G>C
ENST00000699694.1:n.1410G>C
ENST00000699695.1:c.*123G>C	ENSP00000514526.1:n.*123G>C
ENST00000699696.1:n.1054G>C
ENST00000699697.1:c.751G>C	ENSP00000514527.1:p.Glu251Gln
ENST00000699698.1:n.672G>C
ENST00000699699.1:n.1075G>C
ENST00000699700.1:n.1198G>C
ENST00000699701.1:c.*131G>C	ENSP00000514528.1:n.*131G>C
ENST00000267415.12:c.751G>C MANE Select	ENSP00000267415.7:p.Glu251Gln
ENST00000557921.2:c.643G>C	ENSP00000453157.2:p.Glu215Gln
ENST00000646753.1:c.646G>C	ENSP00000494065.1:p.Glu216Gln
ENST00000267415.11:c.751G>C	ENSP00000267415.7:p.Glu251Gln
ENST00000399423.8:c.751G>C	ENSP00000382350.4:p.Glu251Gln
ENST00000558476.5:c.313G>C	ENSP00000452724.1:p.Glu105Gln
ENST00000558566.1:c.*123G>C	ENSP00000453025.1:n.*123G>C
ENST00000559019.1:c.*123G>C	ENSP00000453675.1:n.*123G>C
ENST00000559549.1:n.477G>C
ENST00000559969.5:c.707G>C
ENST00000626689.2:c.*123G>C	ENSP00000486681.1:n.*123G>C
NM_001099274.1:c.751G>C	NP_001092744.1:p.Glu251Gln
NM_012461.2:c.751G>C	NP_036593.2:p.Glu251Gln
XM_005267528.2:c.751G>C	XP_005267585.1:p.Glu251Gln
XM_005267529.2:c.646G>C	XP_005267586.1:p.Glu216Gln
NM_001099274.2:c.751G>C	NP_001092744.1:p.Glu251Gln
NM_001363668.1:c.646G>C	NP_001350597.1:p.Glu216Gln
NM_012461.3:c.751G>C	NP_036593.2:p.Glu251Gln
XM_011536642.2:c.*131G>C	XP_011534944.1:n.*131G>C
XM_017021216.2:c.109G>C	XP_016876705.1:p.Glu37Gln
XM_017021217.1:c.109G>C	XP_016876706.1:p.Glu37Gln
NM_001099274.3:c.751G>C MANE Select	NP_001092744.1:p.Glu251Gln
NM_001363668.2:c.646G>C	NP_001350597.1:p.Glu216Gln