Canonical Allele Identifier: CA257880947

Gene: TINF2

Linked Data

• dbSNP Id: rs763990966
• MyVariant Identifiers: chr14:g.24709877G>A (hg19) ; chr14:g.24240671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240671G>A , CM000676.2:g.24240671G>A	GRCh38
NC_000014.8:g.24709877G>A , CM000676.1:g.24709877G>A	GRCh37
NC_000014.7:g.23779717G>A	NCBI36
NG_016650.1:g.7004C>T
NG_054634.1:g.13255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1112C>T
ENST00000557921.3:c.701C>T	ENSP00000453157.3:p.Ser234Phe
ENST00000699682.1:n.1199C>T
ENST00000699683.1:n.1249C>T
ENST00000699684.1:c.*402C>T	ENSP00000514523.1:n.*402C>T
ENST00000699685.1:n.1013C>T
ENST00000699686.1:c.602C>T	ENSP00000514524.1:p.Ser201Phe
ENST00000699687.1:c.704C>T	ENSP00000514525.1:p.Ser235Phe
ENST00000699688.1:n.1009C>T
ENST00000699689.1:n.1365C>T
ENST00000699690.1:n.1562C>T
ENST00000699691.1:n.1706C>T
ENST00000699693.1:n.1226C>T
ENST00000699694.1:n.1468C>T
ENST00000699695.1:c.*181C>T	ENSP00000514526.1:n.*181C>T
ENST00000699696.1:n.1112C>T
ENST00000699697.1:c.809C>T	ENSP00000514527.1:p.Ser270Phe
ENST00000699698.1:n.730C>T
ENST00000699699.1:n.1133C>T
ENST00000699700.1:n.1256C>T
ENST00000699701.1:c.*189C>T	ENSP00000514528.1:n.*189C>T
ENST00000267415.12:c.809C>T MANE Select	ENSP00000267415.7:p.Ser270Phe
ENST00000557921.2:c.701C>T	ENSP00000453157.2:p.Ser234Phe
ENST00000646753.1:c.704C>T	ENSP00000494065.1:p.Ser235Phe
ENST00000267415.11:c.809C>T	ENSP00000267415.7:p.Ser270Phe
ENST00000399423.8:c.809C>T	ENSP00000382350.4:p.Ser270Phe
ENST00000558476.5:c.371C>T	ENSP00000452724.1:p.Ser124Phe
ENST00000558566.1:c.*181C>T	ENSP00000453025.1:n.*181C>T
ENST00000559019.1:c.*181C>T	ENSP00000453675.1:n.*181C>T
ENST00000559549.1:n.535C>T
ENST00000559969.5:c.757+8C>T
ENST00000626689.2:c.*181C>T	ENSP00000486681.1:n.*181C>T
NM_001099274.1:c.809C>T	NP_001092744.1:p.Ser270Phe
NM_012461.2:c.809C>T	NP_036593.2:p.Ser270Phe
XM_005267528.2:c.809C>T	XP_005267585.1:p.Ser270Phe
XM_005267529.2:c.704C>T	XP_005267586.1:p.Ser235Phe
NM_001099274.2:c.809C>T	NP_001092744.1:p.Ser270Phe
NM_001363668.1:c.704C>T	NP_001350597.1:p.Ser235Phe
NM_012461.3:c.809C>T	NP_036593.2:p.Ser270Phe
XM_011536642.2:c.*189C>T	XP_011534944.1:n.*189C>T
XM_017021216.2:c.167C>T	XP_016876705.1:p.Ser56Phe
XM_017021217.1:c.167C>T	XP_016876706.1:p.Ser56Phe
NM_001099274.3:c.809C>T MANE Select	NP_001092744.1:p.Ser270Phe
NM_001363668.2:c.704C>T	NP_001350597.1:p.Ser235Phe