Canonical Allele Identifier: CA7130480

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1580884
• ClinVar RCV Id: RCV002094929
• dbSNP Id: rs762697610
• ExAC: 14:24709371 G / A
• gnomAD v2: 14-24709371-G-A
• gnomAD v4: 14-24240165-G-A
• MyVariant Identifiers: chr14:g.24709371G>A (hg19) ; chr14:g.24240165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240165G>A , CM000676.2:g.24240165G>A	GRCh38
NC_000014.8:g.24709371G>A , CM000676.1:g.24709371G>A	GRCh37
NC_000014.7:g.23779211G>A	NCBI36
NG_016650.1:g.7510C>T
NG_054634.1:g.12749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-10C>T
ENST00000557921.3:c.*250C>T	ENSP00000453157.3:n.*250C>T
ENST00000699682.1:n.1705C>T
ENST00000699683.1:n.1755C>T
ENST00000699684.1:c.*908C>T	ENSP00000514523.1:n.*908C>T
ENST00000699685.1:n.1519C>T
ENST00000699686.1:c.*250C>T	ENSP00000514524.1:n.*250C>T
ENST00000699687.1:c.*250C>T	ENSP00000514525.1:n.*250C>T
ENST00000699688.1:n.1515C>T
ENST00000699689.1:n.1871C>T
ENST00000699690.1:n.2068C>T
ENST00000699691.1:n.2212C>T
ENST00000699692.1:n.87C>T
ENST00000699693.1:n.1547-10C>T
ENST00000699694.1:n.1974C>T
ENST00000699695.1:c.*502-10C>T	ENSP00000514526.1:n.*502-10C>T
ENST00000699696.1:n.1521-10C>T
ENST00000699697.1:c.*90C>T	ENSP00000514527.1:n.*90C>T
ENST00000699698.1:n.1148C>T
ENST00000699699.1:n.1639C>T
ENST00000699700.1:n.1762C>T
ENST00000699701.1:c.*695C>T	ENSP00000514528.1:n.*695C>T
ENST00000267415.12:c.1130-10C>T MANE Select	ENSP00000267415.7:n.1130-10C>T
ENST00000646753.1:c.1025-10C>T	ENSP00000494065.1:n.1025-10C>T
ENST00000267415.11:c.1130-10C>T	ENSP00000267415.7:n.1130-10C>T
ENST00000399423.8:c.*250C>T	ENSP00000382350.4:n.*250C>T
ENST00000557915.1:n.337-10C>T
ENST00000558566.1:c.*687C>T	ENSP00000453025.1:n.*687C>T
ENST00000558703.1:n.78C>T
ENST00000559969.5:c.1073C>T
ENST00000560019.5:c.125-10C>T	ENSP00000453113.1:n.125-10C>T
ENST00000626689.2:c.*502-10C>T	ENSP00000486681.1:n.*502-10C>T
NM_001099274.1:c.1130-10C>T	NP_001092744.1:n.1130-10C>T
NM_012461.2:c.*250C>T	NP_036593.2:n.*250C>T
XM_005267528.2:c.1130-10C>T	XP_005267585.1:n.1130-10C>T
XM_005267529.2:c.1025-10C>T	XP_005267586.1:n.1025-10C>T
NM_001099274.2:c.1130-10C>T	NP_001092744.1:n.1130-10C>T
NM_001363668.1:c.1025-10C>T	NP_001350597.1:n.1025-10C>T
NM_012461.3:c.*250C>T	NP_036593.2:n.*250C>T
XM_011536642.2:c.*695C>T	XP_011534944.1:n.*695C>T
XM_017021216.2:c.488-10C>T	XP_016876705.1:n.488-10C>T
XM_017021217.1:c.488-10C>T	XP_016876706.1:n.488-10C>T
NM_001099274.3:c.1130-10C>T MANE Select	NP_001092744.1:n.1130-10C>T
NM_001363668.2:c.1025-10C>T	NP_001350597.1:n.1025-10C>T