Canonical Allele Identifier: CA389225449

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709832A>G (hg19) ; chr14:g.24240626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240626A>G , CM000676.2:g.24240626A>G	GRCh38
NC_000014.8:g.24709832A>G , CM000676.1:g.24709832A>G	GRCh37
NC_000014.7:g.23779672A>G	NCBI36
NG_016650.1:g.7049T>C
NG_054634.1:g.13210A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1157T>C
ENST00000557921.3:c.746T>C	ENSP00000453157.3:p.Val249Ala
ENST00000699682.1:n.1244T>C
ENST00000699683.1:n.1294T>C
ENST00000699684.1:c.*447T>C	ENSP00000514523.1:n.*447T>C
ENST00000699685.1:n.1058T>C
ENST00000699686.1:c.647T>C	ENSP00000514524.1:p.Val216Ala
ENST00000699687.1:c.749T>C	ENSP00000514525.1:p.Val250Ala
ENST00000699688.1:n.1054T>C
ENST00000699689.1:n.1410T>C
ENST00000699690.1:n.1607T>C
ENST00000699691.1:n.1751T>C
ENST00000699693.1:n.1271T>C
ENST00000699694.1:n.1513T>C
ENST00000699695.1:c.*226T>C	ENSP00000514526.1:n.*226T>C
ENST00000699696.1:n.1157T>C
ENST00000699697.1:c.854T>C	ENSP00000514527.1:p.Val285Ala
ENST00000699698.1:n.775T>C
ENST00000699699.1:n.1178T>C
ENST00000699700.1:n.1301T>C
ENST00000699701.1:c.*234T>C	ENSP00000514528.1:n.*234T>C
ENST00000267415.12:c.854T>C MANE Select	ENSP00000267415.7:p.Val285Ala
ENST00000557921.2:c.746T>C	ENSP00000453157.2:p.Val249Ala
ENST00000646753.1:c.749T>C	ENSP00000494065.1:p.Val250Ala
ENST00000267415.11:c.854T>C	ENSP00000267415.7:p.Val285Ala
ENST00000399423.8:c.854T>C	ENSP00000382350.4:p.Val285Ala
ENST00000558476.5:c.416T>C	ENSP00000452724.1:p.Val139Ala
ENST00000558566.1:c.*226T>C	ENSP00000453025.1:n.*226T>C
ENST00000559019.1:c.*226T>C	ENSP00000453675.1:n.*226T>C
ENST00000559549.1:n.580T>C
ENST00000559969.5:c.757+53T>C
ENST00000626689.2:c.*226T>C	ENSP00000486681.1:n.*226T>C
NM_001099274.1:c.854T>C	NP_001092744.1:p.Val285Ala
NM_012461.2:c.854T>C	NP_036593.2:p.Val285Ala
XM_005267528.2:c.854T>C	XP_005267585.1:p.Val285Ala
XM_005267529.2:c.749T>C	XP_005267586.1:p.Val250Ala
NM_001099274.2:c.854T>C	NP_001092744.1:p.Val285Ala
NM_001363668.1:c.749T>C	NP_001350597.1:p.Val250Ala
NM_012461.3:c.854T>C	NP_036593.2:p.Val285Ala
XM_011536642.2:c.*234T>C	XP_011534944.1:n.*234T>C
XM_017021216.2:c.212T>C	XP_016876705.1:p.Val71Ala
XM_017021217.1:c.212T>C	XP_016876706.1:p.Val71Ala
NM_001099274.3:c.854T>C MANE Select	NP_001092744.1:p.Val285Ala
NM_001363668.2:c.749T>C	NP_001350597.1:p.Val250Ala