Canonical Allele Identifier: CA389226520

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709916T>A (hg19) ; chr14:g.24240710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240710T>A , CM000676.2:g.24240710T>A	GRCh38
NC_000014.8:g.24709916T>A , CM000676.1:g.24709916T>A	GRCh37
NC_000014.7:g.23779756T>A	NCBI36
NG_016650.1:g.6965A>T
NG_054634.1:g.13294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1073A>T
ENST00000557921.3:c.662A>T	ENSP00000453157.3:p.His221Leu
ENST00000699682.1:n.1160A>T
ENST00000699683.1:n.1210A>T
ENST00000699684.1:c.*363A>T	ENSP00000514523.1:n.*363A>T
ENST00000699685.1:n.974A>T
ENST00000699686.1:c.563A>T	ENSP00000514524.1:p.His188Leu
ENST00000699687.1:c.665A>T	ENSP00000514525.1:p.His222Leu
ENST00000699688.1:n.970A>T
ENST00000699689.1:n.1326A>T
ENST00000699690.1:n.1523A>T
ENST00000699691.1:n.1667A>T
ENST00000699693.1:n.1187A>T
ENST00000699694.1:n.1429A>T
ENST00000699695.1:c.*142A>T	ENSP00000514526.1:n.*142A>T
ENST00000699696.1:n.1073A>T
ENST00000699697.1:c.770A>T	ENSP00000514527.1:p.His257Leu
ENST00000699698.1:n.691A>T
ENST00000699699.1:n.1094A>T
ENST00000699700.1:n.1217A>T
ENST00000699701.1:c.*150A>T	ENSP00000514528.1:n.*150A>T
ENST00000267415.12:c.770A>T MANE Select	ENSP00000267415.7:p.His257Leu
ENST00000557921.2:c.662A>T	ENSP00000453157.2:p.His221Leu
ENST00000646753.1:c.665A>T	ENSP00000494065.1:p.His222Leu
ENST00000267415.11:c.770A>T	ENSP00000267415.7:p.His257Leu
ENST00000399423.8:c.770A>T	ENSP00000382350.4:p.His257Leu
ENST00000558476.5:c.332A>T	ENSP00000452724.1:p.His111Leu
ENST00000558566.1:c.*142A>T	ENSP00000453025.1:n.*142A>T
ENST00000559019.1:c.*142A>T	ENSP00000453675.1:n.*142A>T
ENST00000559549.1:n.496A>T
ENST00000559969.5:c.726A>T
ENST00000626689.2:c.*142A>T	ENSP00000486681.1:n.*142A>T
NM_001099274.1:c.770A>T	NP_001092744.1:p.His257Leu
NM_012461.2:c.770A>T	NP_036593.2:p.His257Leu
XM_005267528.2:c.770A>T	XP_005267585.1:p.His257Leu
XM_005267529.2:c.665A>T	XP_005267586.1:p.His222Leu
NM_001099274.2:c.770A>T	NP_001092744.1:p.His257Leu
NM_001363668.1:c.665A>T	NP_001350597.1:p.His222Leu
NM_012461.3:c.770A>T	NP_036593.2:p.His257Leu
XM_011536642.2:c.*150A>T	XP_011534944.1:n.*150A>T
XM_017021216.2:c.128A>T	XP_016876705.1:p.His43Leu
XM_017021217.1:c.128A>T	XP_016876706.1:p.His43Leu
NM_001099274.3:c.770A>T MANE Select	NP_001092744.1:p.His257Leu
NM_001363668.2:c.665A>T	NP_001350597.1:p.His222Leu