Canonical Allele Identifier: CA389226085

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709878A>G (hg19) ; chr14:g.24240672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240672A>G , CM000676.2:g.24240672A>G	GRCh38
NC_000014.8:g.24709878A>G , CM000676.1:g.24709878A>G	GRCh37
NC_000014.7:g.23779718A>G	NCBI36
NG_016650.1:g.7003T>C
NG_054634.1:g.13256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1111T>C
ENST00000557921.3:c.700T>C	ENSP00000453157.3:p.Ser234Pro
ENST00000699682.1:n.1198T>C
ENST00000699683.1:n.1248T>C
ENST00000699684.1:c.*401T>C	ENSP00000514523.1:n.*401T>C
ENST00000699685.1:n.1012T>C
ENST00000699686.1:c.601T>C	ENSP00000514524.1:p.Ser201Pro
ENST00000699687.1:c.703T>C	ENSP00000514525.1:p.Ser235Pro
ENST00000699688.1:n.1008T>C
ENST00000699689.1:n.1364T>C
ENST00000699690.1:n.1561T>C
ENST00000699691.1:n.1705T>C
ENST00000699693.1:n.1225T>C
ENST00000699694.1:n.1467T>C
ENST00000699695.1:c.*180T>C	ENSP00000514526.1:n.*180T>C
ENST00000699696.1:n.1111T>C
ENST00000699697.1:c.808T>C	ENSP00000514527.1:p.Ser270Pro
ENST00000699698.1:n.729T>C
ENST00000699699.1:n.1132T>C
ENST00000699700.1:n.1255T>C
ENST00000699701.1:c.*188T>C	ENSP00000514528.1:n.*188T>C
ENST00000267415.12:c.808T>C MANE Select	ENSP00000267415.7:p.Ser270Pro
ENST00000557921.2:c.700T>C	ENSP00000453157.2:p.Ser234Pro
ENST00000646753.1:c.703T>C	ENSP00000494065.1:p.Ser235Pro
ENST00000267415.11:c.808T>C	ENSP00000267415.7:p.Ser270Pro
ENST00000399423.8:c.808T>C	ENSP00000382350.4:p.Ser270Pro
ENST00000558476.5:c.370T>C	ENSP00000452724.1:p.Ser124Pro
ENST00000558566.1:c.*180T>C	ENSP00000453025.1:n.*180T>C
ENST00000559019.1:c.*180T>C	ENSP00000453675.1:n.*180T>C
ENST00000559549.1:n.534T>C
ENST00000559969.5:c.757+7T>C
ENST00000626689.2:c.*180T>C	ENSP00000486681.1:n.*180T>C
NM_001099274.1:c.808T>C	NP_001092744.1:p.Ser270Pro
NM_012461.2:c.808T>C	NP_036593.2:p.Ser270Pro
XM_005267528.2:c.808T>C	XP_005267585.1:p.Ser270Pro
XM_005267529.2:c.703T>C	XP_005267586.1:p.Ser235Pro
NM_001099274.2:c.808T>C	NP_001092744.1:p.Ser270Pro
NM_001363668.1:c.703T>C	NP_001350597.1:p.Ser235Pro
NM_012461.3:c.808T>C	NP_036593.2:p.Ser270Pro
XM_011536642.2:c.*188T>C	XP_011534944.1:n.*188T>C
XM_017021216.2:c.166T>C	XP_016876705.1:p.Ser56Pro
XM_017021217.1:c.166T>C	XP_016876706.1:p.Ser56Pro
NM_001099274.3:c.808T>C MANE Select	NP_001092744.1:p.Ser270Pro
NM_001363668.2:c.703T>C	NP_001350597.1:p.Ser235Pro