Canonical Allele Identifier: CA389225780

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1692550
• ClinVar RCV Id: RCV002259229
• dbSNP Id: rs2138998258
• MyVariant Identifiers: chr14:g.24709858C>A (hg19) ; chr14:g.24240652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240652C>A , CM000676.2:g.24240652C>A	GRCh38
NC_000014.8:g.24709858C>A , CM000676.1:g.24709858C>A	GRCh37
NC_000014.7:g.23779698C>A	NCBI36
NG_016650.1:g.7023G>T
NG_054634.1:g.13236C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1131G>T
ENST00000557921.3:c.720G>T	ENSP00000453157.3:p.Arg240Ser
ENST00000699682.1:n.1218G>T
ENST00000699683.1:n.1268G>T
ENST00000699684.1:c.*421G>T	ENSP00000514523.1:n.*421G>T
ENST00000699685.1:n.1032G>T
ENST00000699686.1:c.621G>T	ENSP00000514524.1:p.Arg207Ser
ENST00000699687.1:c.723G>T	ENSP00000514525.1:p.Arg241Ser
ENST00000699688.1:n.1028G>T
ENST00000699689.1:n.1384G>T
ENST00000699690.1:n.1581G>T
ENST00000699691.1:n.1725G>T
ENST00000699693.1:n.1245G>T
ENST00000699694.1:n.1487G>T
ENST00000699695.1:c.*200G>T	ENSP00000514526.1:n.*200G>T
ENST00000699696.1:n.1131G>T
ENST00000699697.1:c.828G>T	ENSP00000514527.1:p.Arg276Ser
ENST00000699698.1:n.749G>T
ENST00000699699.1:n.1152G>T
ENST00000699700.1:n.1275G>T
ENST00000699701.1:c.*208G>T	ENSP00000514528.1:n.*208G>T
ENST00000267415.12:c.828G>T MANE Select	ENSP00000267415.7:p.Arg276Ser
ENST00000557921.2:c.720G>T	ENSP00000453157.2:p.Arg240Ser
ENST00000646753.1:c.723G>T	ENSP00000494065.1:p.Arg241Ser
ENST00000267415.11:c.828G>T	ENSP00000267415.7:p.Arg276Ser
ENST00000399423.8:c.828G>T	ENSP00000382350.4:p.Arg276Ser
ENST00000558476.5:c.390G>T	ENSP00000452724.1:p.Arg130Ser
ENST00000558566.1:c.*200G>T	ENSP00000453025.1:n.*200G>T
ENST00000559019.1:c.*200G>T	ENSP00000453675.1:n.*200G>T
ENST00000559549.1:n.554G>T
ENST00000559969.5:c.757+27G>T
ENST00000626689.2:c.*200G>T	ENSP00000486681.1:n.*200G>T
NM_001099274.1:c.828G>T	NP_001092744.1:p.Arg276Ser
NM_012461.2:c.828G>T	NP_036593.2:p.Arg276Ser
XM_005267528.2:c.828G>T	XP_005267585.1:p.Arg276Ser
XM_005267529.2:c.723G>T	XP_005267586.1:p.Arg241Ser
NM_001099274.2:c.828G>T	NP_001092744.1:p.Arg276Ser
NM_001363668.1:c.723G>T	NP_001350597.1:p.Arg241Ser
NM_012461.3:c.828G>T	NP_036593.2:p.Arg276Ser
XM_011536642.2:c.*208G>T	XP_011534944.1:n.*208G>T
XM_017021216.2:c.186G>T	XP_016876705.1:p.Arg62Ser
XM_017021217.1:c.186G>T	XP_016876706.1:p.Arg62Ser
NM_001099274.3:c.828G>T MANE Select	NP_001092744.1:p.Arg276Ser
NM_001363668.2:c.723G>T	NP_001350597.1:p.Arg241Ser