Canonical Allele Identifier: CA389225377

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709823A>G (hg19) ; chr14:g.24240617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240617A>G , CM000676.2:g.24240617A>G	GRCh38
NC_000014.8:g.24709823A>G , CM000676.1:g.24709823A>G	GRCh37
NC_000014.7:g.23779663A>G	NCBI36
NG_016650.1:g.7058T>C
NG_054634.1:g.13201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1166T>C
ENST00000557921.3:c.755T>C	ENSP00000453157.3:p.Phe252Ser
ENST00000699682.1:n.1253T>C
ENST00000699683.1:n.1303T>C
ENST00000699684.1:c.*456T>C	ENSP00000514523.1:n.*456T>C
ENST00000699685.1:n.1067T>C
ENST00000699686.1:c.656T>C	ENSP00000514524.1:p.Phe219Ser
ENST00000699687.1:c.758T>C	ENSP00000514525.1:p.Phe253Ser
ENST00000699688.1:n.1063T>C
ENST00000699689.1:n.1419T>C
ENST00000699690.1:n.1616T>C
ENST00000699691.1:n.1760T>C
ENST00000699693.1:n.1280T>C
ENST00000699694.1:n.1522T>C
ENST00000699695.1:c.*235T>C	ENSP00000514526.1:n.*235T>C
ENST00000699696.1:n.1166T>C
ENST00000699697.1:c.863T>C	ENSP00000514527.1:p.Phe288Ser
ENST00000699698.1:n.784T>C
ENST00000699699.1:n.1187T>C
ENST00000699700.1:n.1310T>C
ENST00000699701.1:c.*243T>C	ENSP00000514528.1:n.*243T>C
ENST00000267415.12:c.863T>C MANE Select	ENSP00000267415.7:p.Phe288Ser
ENST00000557921.2:c.755T>C	ENSP00000453157.2:p.Phe252Ser
ENST00000646753.1:c.758T>C	ENSP00000494065.1:p.Phe253Ser
ENST00000267415.11:c.863T>C	ENSP00000267415.7:p.Phe288Ser
ENST00000399423.8:c.863T>C	ENSP00000382350.4:p.Phe288Ser
ENST00000558476.5:c.425T>C	ENSP00000452724.1:p.Phe142Ser
ENST00000558566.1:c.*235T>C	ENSP00000453025.1:n.*235T>C
ENST00000559019.1:c.*235T>C	ENSP00000453675.1:n.*235T>C
ENST00000559549.1:n.589T>C
ENST00000559969.5:c.757+62T>C
ENST00000626689.2:c.*235T>C	ENSP00000486681.1:n.*235T>C
NM_001099274.1:c.863T>C	NP_001092744.1:p.Phe288Ser
NM_012461.2:c.863T>C	NP_036593.2:p.Phe288Ser
XM_005267528.2:c.863T>C	XP_005267585.1:p.Phe288Ser
XM_005267529.2:c.758T>C	XP_005267586.1:p.Phe253Ser
NM_001099274.2:c.863T>C	NP_001092744.1:p.Phe288Ser
NM_001363668.1:c.758T>C	NP_001350597.1:p.Phe253Ser
NM_012461.3:c.863T>C	NP_036593.2:p.Phe288Ser
XM_011536642.2:c.*243T>C	XP_011534944.1:n.*243T>C
XM_017021216.2:c.221T>C	XP_016876705.1:p.Phe74Ser
XM_017021217.1:c.221T>C	XP_016876706.1:p.Phe74Ser
NM_001099274.3:c.863T>C MANE Select	NP_001092744.1:p.Phe288Ser
NM_001363668.2:c.758T>C	NP_001350597.1:p.Phe253Ser