Canonical Allele Identifier: CA389225983

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709872A>G (hg19) ; chr14:g.24240666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240666A>G , CM000676.2:g.24240666A>G	GRCh38
NC_000014.8:g.24709872A>G , CM000676.1:g.24709872A>G	GRCh37
NC_000014.7:g.23779712A>G	NCBI36
NG_016650.1:g.7009T>C
NG_054634.1:g.13250A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1117T>C
ENST00000557921.3:c.706T>C	ENSP00000453157.3:p.Trp236Arg
ENST00000699682.1:n.1204T>C
ENST00000699683.1:n.1254T>C
ENST00000699684.1:c.*407T>C	ENSP00000514523.1:n.*407T>C
ENST00000699685.1:n.1018T>C
ENST00000699686.1:c.607T>C	ENSP00000514524.1:p.Trp203Arg
ENST00000699687.1:c.709T>C	ENSP00000514525.1:p.Trp237Arg
ENST00000699688.1:n.1014T>C
ENST00000699689.1:n.1370T>C
ENST00000699690.1:n.1567T>C
ENST00000699691.1:n.1711T>C
ENST00000699693.1:n.1231T>C
ENST00000699694.1:n.1473T>C
ENST00000699695.1:c.*186T>C	ENSP00000514526.1:n.*186T>C
ENST00000699696.1:n.1117T>C
ENST00000699697.1:c.814T>C	ENSP00000514527.1:p.Trp272Arg
ENST00000699698.1:n.735T>C
ENST00000699699.1:n.1138T>C
ENST00000699700.1:n.1261T>C
ENST00000699701.1:c.*194T>C	ENSP00000514528.1:n.*194T>C
ENST00000267415.12:c.814T>C MANE Select	ENSP00000267415.7:p.Trp272Arg
ENST00000557921.2:c.706T>C	ENSP00000453157.2:p.Trp236Arg
ENST00000646753.1:c.709T>C	ENSP00000494065.1:p.Trp237Arg
ENST00000267415.11:c.814T>C	ENSP00000267415.7:p.Trp272Arg
ENST00000399423.8:c.814T>C	ENSP00000382350.4:p.Trp272Arg
ENST00000558476.5:c.376T>C	ENSP00000452724.1:p.Trp126Arg
ENST00000558566.1:c.*186T>C	ENSP00000453025.1:n.*186T>C
ENST00000559019.1:c.*186T>C	ENSP00000453675.1:n.*186T>C
ENST00000559549.1:n.540T>C
ENST00000559969.5:c.757+13T>C
ENST00000626689.2:c.*186T>C	ENSP00000486681.1:n.*186T>C
NM_001099274.1:c.814T>C	NP_001092744.1:p.Trp272Arg
NM_012461.2:c.814T>C	NP_036593.2:p.Trp272Arg
XM_005267528.2:c.814T>C	XP_005267585.1:p.Trp272Arg
XM_005267529.2:c.709T>C	XP_005267586.1:p.Trp237Arg
NM_001099274.2:c.814T>C	NP_001092744.1:p.Trp272Arg
NM_001363668.1:c.709T>C	NP_001350597.1:p.Trp237Arg
NM_012461.3:c.814T>C	NP_036593.2:p.Trp272Arg
XM_011536642.2:c.*194T>C	XP_011534944.1:n.*194T>C
XM_017021216.2:c.172T>C	XP_016876705.1:p.Trp58Arg
XM_017021217.1:c.172T>C	XP_016876706.1:p.Trp58Arg
NM_001099274.3:c.814T>C MANE Select	NP_001092744.1:p.Trp272Arg
NM_001363668.2:c.709T>C	NP_001350597.1:p.Trp237Arg