Canonical Allele Identifier: CA7130482

Gene: TINF2

Linked Data

• dbSNP Id: rs751232113
• ExAC: 14:24709387 C / T
• gnomAD v2: 14-24709387-C-T
• gnomAD v3: 14-24240181-C-T
• gnomAD v4: 14-24240181-C-T
• MyVariant Identifiers: chr14:g.24709387C>T (hg19) ; chr14:g.24240181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240181C>T , CM000676.2:g.24240181C>T	GRCh38
NC_000014.8:g.24709387C>T , CM000676.1:g.24709387C>T	GRCh37
NC_000014.7:g.23779227C>T	NCBI36
NG_016650.1:g.7494G>A
NG_054634.1:g.12765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-26G>A
ENST00000557921.3:c.*234G>A	ENSP00000453157.3:n.*234G>A
ENST00000699682.1:n.1689G>A
ENST00000699683.1:n.1739G>A
ENST00000699684.1:c.*892G>A	ENSP00000514523.1:n.*892G>A
ENST00000699685.1:n.1503G>A
ENST00000699686.1:c.*234G>A	ENSP00000514524.1:n.*234G>A
ENST00000699687.1:c.*234G>A	ENSP00000514525.1:n.*234G>A
ENST00000699688.1:n.1499G>A
ENST00000699689.1:n.1855G>A
ENST00000699690.1:n.2052G>A
ENST00000699691.1:n.2196G>A
ENST00000699692.1:n.71G>A
ENST00000699693.1:n.1547-26G>A
ENST00000699694.1:n.1958G>A
ENST00000699695.1:c.*502-26G>A	ENSP00000514526.1:n.*502-26G>A
ENST00000699696.1:n.1521-26G>A
ENST00000699697.1:c.*74G>A	ENSP00000514527.1:n.*74G>A
ENST00000699698.1:n.1132G>A
ENST00000699699.1:n.1623G>A
ENST00000699700.1:n.1746G>A
ENST00000699701.1:c.*679G>A	ENSP00000514528.1:n.*679G>A
ENST00000267415.12:c.1130-26G>A MANE Select	ENSP00000267415.7:n.1130-26G>A
ENST00000646753.1:c.1025-26G>A	ENSP00000494065.1:n.1025-26G>A
ENST00000267415.11:c.1130-26G>A	ENSP00000267415.7:n.1130-26G>A
ENST00000399423.8:c.*234G>A	ENSP00000382350.4:n.*234G>A
ENST00000557915.1:n.337-26G>A
ENST00000558566.1:c.*671G>A	ENSP00000453025.1:n.*671G>A
ENST00000558703.1:n.62G>A
ENST00000559969.5:c.1057G>A
ENST00000560019.5:c.125-26G>A	ENSP00000453113.1:n.125-26G>A
ENST00000626689.2:c.*502-26G>A	ENSP00000486681.1:n.*502-26G>A
NM_001099274.1:c.1130-26G>A	NP_001092744.1:n.1130-26G>A
NM_012461.2:c.*234G>A	NP_036593.2:n.*234G>A
XM_005267528.2:c.1130-26G>A	XP_005267585.1:n.1130-26G>A
XM_005267529.2:c.1025-26G>A	XP_005267586.1:n.1025-26G>A
NM_001099274.2:c.1130-26G>A	NP_001092744.1:n.1130-26G>A
NM_001363668.1:c.1025-26G>A	NP_001350597.1:n.1025-26G>A
NM_012461.3:c.*234G>A	NP_036593.2:n.*234G>A
XM_011536642.2:c.*679G>A	XP_011534944.1:n.*679G>A
XM_017021216.2:c.488-26G>A	XP_016876705.1:n.488-26G>A
XM_017021217.1:c.488-26G>A	XP_016876706.1:n.488-26G>A
NM_001099274.3:c.1130-26G>A MANE Select	NP_001092744.1:n.1130-26G>A
NM_001363668.2:c.1025-26G>A	NP_001350597.1:n.1025-26G>A