Canonical Allele Identifier: CA389226243

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709889C>A (hg19) ; chr14:g.24240683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240683C>A , CM000676.2:g.24240683C>A	GRCh38
NC_000014.8:g.24709889C>A , CM000676.1:g.24709889C>A	GRCh37
NC_000014.7:g.23779729C>A	NCBI36
NG_016650.1:g.6992G>T
NG_054634.1:g.13267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1100G>T
ENST00000557921.3:c.689G>T	ENSP00000453157.3:p.Arg230Leu
ENST00000699682.1:n.1187G>T
ENST00000699683.1:n.1237G>T
ENST00000699684.1:c.*390G>T	ENSP00000514523.1:n.*390G>T
ENST00000699685.1:n.1001G>T
ENST00000699686.1:c.590G>T	ENSP00000514524.1:p.Arg197Leu
ENST00000699687.1:c.692G>T	ENSP00000514525.1:p.Arg231Leu
ENST00000699688.1:n.997G>T
ENST00000699689.1:n.1353G>T
ENST00000699690.1:n.1550G>T
ENST00000699691.1:n.1694G>T
ENST00000699693.1:n.1214G>T
ENST00000699694.1:n.1456G>T
ENST00000699695.1:c.*169G>T	ENSP00000514526.1:n.*169G>T
ENST00000699696.1:n.1100G>T
ENST00000699697.1:c.797G>T	ENSP00000514527.1:p.Arg266Leu
ENST00000699698.1:n.718G>T
ENST00000699699.1:n.1121G>T
ENST00000699700.1:n.1244G>T
ENST00000699701.1:c.*177G>T	ENSP00000514528.1:n.*177G>T
ENST00000267415.12:c.797G>T MANE Select	ENSP00000267415.7:p.Arg266Leu
ENST00000557921.2:c.689G>T	ENSP00000453157.2:p.Arg230Leu
ENST00000646753.1:c.692G>T	ENSP00000494065.1:p.Arg231Leu
ENST00000267415.11:c.797G>T	ENSP00000267415.7:p.Arg266Leu
ENST00000399423.8:c.797G>T	ENSP00000382350.4:p.Arg266Leu
ENST00000558476.5:c.359G>T	ENSP00000452724.1:p.Arg120Leu
ENST00000558566.1:c.*169G>T	ENSP00000453025.1:n.*169G>T
ENST00000559019.1:c.*169G>T	ENSP00000453675.1:n.*169G>T
ENST00000559549.1:n.523G>T
ENST00000559969.5:c.753G>T
ENST00000626689.2:c.*169G>T	ENSP00000486681.1:n.*169G>T
NM_001099274.1:c.797G>T	NP_001092744.1:p.Arg266Leu
NM_012461.2:c.797G>T	NP_036593.2:p.Arg266Leu
XM_005267528.2:c.797G>T	XP_005267585.1:p.Arg266Leu
XM_005267529.2:c.692G>T	XP_005267586.1:p.Arg231Leu
NM_001099274.2:c.797G>T	NP_001092744.1:p.Arg266Leu
NM_001363668.1:c.692G>T	NP_001350597.1:p.Arg231Leu
NM_012461.3:c.797G>T	NP_036593.2:p.Arg266Leu
XM_011536642.2:c.*177G>T	XP_011534944.1:n.*177G>T
XM_017021216.2:c.155G>T	XP_016876705.1:p.Arg52Leu
XM_017021217.1:c.155G>T	XP_016876706.1:p.Arg52Leu
NM_001099274.3:c.797G>T MANE Select	NP_001092744.1:p.Arg266Leu
NM_001363668.2:c.692G>T	NP_001350597.1:p.Arg231Leu