Canonical Allele Identifier: CA389223270

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709621T>A (hg19) ; chr14:g.24240415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240415T>A , CM000676.2:g.24240415T>A	GRCh38
NC_000014.8:g.24709621T>A , CM000676.1:g.24709621T>A	GRCh37
NC_000014.7:g.23779461T>A	NCBI36
NG_016650.1:g.7260A>T
NG_054634.1:g.12999T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1368A>T
ENST00000557921.3:c.957A>T	ENSP00000453157.3:p.Ter319Cys
ENST00000699682.1:n.1455A>T
ENST00000699683.1:n.1505A>T
ENST00000699684.1:c.*658A>T	ENSP00000514523.1:n.*658A>T
ENST00000699685.1:n.1269A>T
ENST00000699686.1:c.858A>T	ENSP00000514524.1:p.Ter286Cys
ENST00000699687.1:c.960A>T	ENSP00000514525.1:p.Ter320Cys
ENST00000699688.1:n.1265A>T
ENST00000699689.1:n.1621A>T
ENST00000699690.1:n.1818A>T
ENST00000699691.1:n.1962A>T
ENST00000699693.1:n.1478+4A>T
ENST00000699694.1:n.1724A>T
ENST00000699695.1:c.*433+4A>T	ENSP00000514526.1:n.*433+4A>T
ENST00000699696.1:n.1368A>T
ENST00000699697.1:c.1061+4A>T	ENSP00000514527.1:n.1061+4A>T
ENST00000699698.1:n.982+4A>T
ENST00000699699.1:n.1389A>T
ENST00000699700.1:n.1512A>T
ENST00000699701.1:c.*445A>T	ENSP00000514528.1:n.*445A>T
ENST00000267415.12:c.1061+4A>T MANE Select	ENSP00000267415.7:n.1061+4A>T
ENST00000646753.1:c.956+4A>T	ENSP00000494065.1:n.956+4A>T
ENST00000267415.11:c.1061+4A>T	ENSP00000267415.7:n.1061+4A>T
ENST00000399423.8:c.1065A>T	ENSP00000382350.4:p.Ter355Cys
ENST00000557915.1:n.184A>T
ENST00000558566.1:c.*437A>T	ENSP00000453025.1:n.*437A>T
ENST00000559969.5:c.823A>T
ENST00000560019.5:c.56+4A>T	ENSP00000453113.1:n.56+4A>T
ENST00000626689.2:c.*433+4A>T	ENSP00000486681.1:n.*433+4A>T
NM_001099274.1:c.1061+4A>T	NP_001092744.1:n.1061+4A>T
NM_012461.2:c.1065A>T	NP_036593.2:p.Ter355Cys
XM_005267528.2:c.1061+4A>T	XP_005267585.1:n.1061+4A>T
XM_005267529.2:c.956+4A>T	XP_005267586.1:n.956+4A>T
NM_001099274.2:c.1061+4A>T	NP_001092744.1:n.1061+4A>T
NM_001363668.1:c.956+4A>T	NP_001350597.1:n.956+4A>T
NM_012461.3:c.1065A>T	NP_036593.2:p.Ter355Cys
XM_011536642.2:c.*445A>T	XP_011534944.1:n.*445A>T
XM_017021216.2:c.419+4A>T	XP_016876705.1:n.419+4A>T
XM_017021217.1:c.419+4A>T	XP_016876706.1:n.419+4A>T
NM_001099274.3:c.1061+4A>T MANE Select	NP_001092744.1:n.1061+4A>T
NM_001363668.2:c.956+4A>T	NP_001350597.1:n.956+4A>T