Canonical Allele Identifier: CA389225396

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709824A>C (hg19) ; chr14:g.24240618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240618A>C , CM000676.2:g.24240618A>C	GRCh38
NC_000014.8:g.24709824A>C , CM000676.1:g.24709824A>C	GRCh37
NC_000014.7:g.23779664A>C	NCBI36
NG_016650.1:g.7057T>G
NG_054634.1:g.13202A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1165T>G
ENST00000557921.3:c.754T>G	ENSP00000453157.3:p.Phe252Val
ENST00000699682.1:n.1252T>G
ENST00000699683.1:n.1302T>G
ENST00000699684.1:c.*455T>G	ENSP00000514523.1:n.*455T>G
ENST00000699685.1:n.1066T>G
ENST00000699686.1:c.655T>G	ENSP00000514524.1:p.Phe219Val
ENST00000699687.1:c.757T>G	ENSP00000514525.1:p.Phe253Val
ENST00000699688.1:n.1062T>G
ENST00000699689.1:n.1418T>G
ENST00000699690.1:n.1615T>G
ENST00000699691.1:n.1759T>G
ENST00000699693.1:n.1279T>G
ENST00000699694.1:n.1521T>G
ENST00000699695.1:c.*234T>G	ENSP00000514526.1:n.*234T>G
ENST00000699696.1:n.1165T>G
ENST00000699697.1:c.862T>G	ENSP00000514527.1:p.Phe288Val
ENST00000699698.1:n.783T>G
ENST00000699699.1:n.1186T>G
ENST00000699700.1:n.1309T>G
ENST00000699701.1:c.*242T>G	ENSP00000514528.1:n.*242T>G
ENST00000267415.12:c.862T>G MANE Select	ENSP00000267415.7:p.Phe288Val
ENST00000557921.2:c.754T>G	ENSP00000453157.2:p.Phe252Val
ENST00000646753.1:c.757T>G	ENSP00000494065.1:p.Phe253Val
ENST00000267415.11:c.862T>G	ENSP00000267415.7:p.Phe288Val
ENST00000399423.8:c.862T>G	ENSP00000382350.4:p.Phe288Val
ENST00000558476.5:c.424T>G	ENSP00000452724.1:p.Phe142Val
ENST00000558566.1:c.*234T>G	ENSP00000453025.1:n.*234T>G
ENST00000559019.1:c.*234T>G	ENSP00000453675.1:n.*234T>G
ENST00000559549.1:n.588T>G
ENST00000559969.5:c.757+61T>G
ENST00000626689.2:c.*234T>G	ENSP00000486681.1:n.*234T>G
NM_001099274.1:c.862T>G	NP_001092744.1:p.Phe288Val
NM_012461.2:c.862T>G	NP_036593.2:p.Phe288Val
XM_005267528.2:c.862T>G	XP_005267585.1:p.Phe288Val
XM_005267529.2:c.757T>G	XP_005267586.1:p.Phe253Val
NM_001099274.2:c.862T>G	NP_001092744.1:p.Phe288Val
NM_001363668.1:c.757T>G	NP_001350597.1:p.Phe253Val
NM_012461.3:c.862T>G	NP_036593.2:p.Phe288Val
XM_011536642.2:c.*242T>G	XP_011534944.1:n.*242T>G
XM_017021216.2:c.220T>G	XP_016876705.1:p.Phe74Val
XM_017021217.1:c.220T>G	XP_016876706.1:p.Phe74Val
NM_001099274.3:c.862T>G MANE Select	NP_001092744.1:p.Phe288Val
NM_001363668.2:c.757T>G	NP_001350597.1:p.Phe253Val