Canonical Allele Identifier: CA7130495

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1572211
• ClinVar RCV Id: RCV002219584
• dbSNP Id: rs200599508
• ExAC: 14:24709454 A / T
• gnomAD v2: 14-24709454-A-T
• gnomAD v3: 14-24240248-A-T
• gnomAD v4: 14-24240248-A-T
• MyVariant Identifiers: chr14:g.24709454A>T (hg19) ; chr14:g.24240248A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240248A>T , CM000676.2:g.24240248A>T	GRCh38
NC_000014.8:g.24709454A>T , CM000676.1:g.24709454A>T	GRCh37
NC_000014.7:g.23779294A>T	NCBI36
NG_016650.1:g.7427T>A
NG_054634.1:g.12832A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+15T>A
ENST00000557921.3:c.*167T>A	ENSP00000453157.3:n.*167T>A
ENST00000699682.1:n.1622T>A
ENST00000699683.1:n.1672T>A
ENST00000699684.1:c.*825T>A	ENSP00000514523.1:n.*825T>A
ENST00000699685.1:n.1436T>A
ENST00000699686.1:c.*167T>A	ENSP00000514524.1:n.*167T>A
ENST00000699687.1:c.*167T>A	ENSP00000514525.1:n.*167T>A
ENST00000699688.1:n.1432T>A
ENST00000699689.1:n.1788T>A
ENST00000699690.1:n.1985T>A
ENST00000699691.1:n.2129T>A
ENST00000699692.1:n.68+15T>A
ENST00000699693.1:n.1546+15T>A
ENST00000699694.1:n.1891T>A
ENST00000699695.1:c.*501+15T>A	ENSP00000514526.1:n.*501+15T>A
ENST00000699696.1:n.1520+15T>A
ENST00000699697.1:c.*7T>A	ENSP00000514527.1:n.*7T>A
ENST00000699698.1:n.1065T>A
ENST00000699699.1:n.1556T>A
ENST00000699700.1:n.1679T>A
ENST00000699701.1:c.*612T>A	ENSP00000514528.1:n.*612T>A
ENST00000267415.12:c.1129+15T>A MANE Select	ENSP00000267415.7:n.1129+15T>A
ENST00000646753.1:c.1024+15T>A	ENSP00000494065.1:n.1024+15T>A
ENST00000267415.11:c.1129+15T>A	ENSP00000267415.7:n.1129+15T>A
ENST00000399423.8:c.*167T>A	ENSP00000382350.4:n.*167T>A
ENST00000557915.1:n.336+15T>A
ENST00000558566.1:c.*604T>A	ENSP00000453025.1:n.*604T>A
ENST00000559969.5:c.990T>A
ENST00000560019.5:c.124+15T>A	ENSP00000453113.1:n.124+15T>A
ENST00000626689.2:c.*501+15T>A	ENSP00000486681.1:n.*501+15T>A
NM_001099274.1:c.1129+15T>A	NP_001092744.1:n.1129+15T>A
NM_012461.2:c.*167T>A	NP_036593.2:n.*167T>A
XM_005267528.2:c.1129+15T>A	XP_005267585.1:n.1129+15T>A
XM_005267529.2:c.1024+15T>A	XP_005267586.1:n.1024+15T>A
NM_001099274.2:c.1129+15T>A	NP_001092744.1:n.1129+15T>A
NM_001363668.1:c.1024+15T>A	NP_001350597.1:n.1024+15T>A
NM_012461.3:c.*167T>A	NP_036593.2:n.*167T>A
XM_011536642.2:c.*612T>A	XP_011534944.1:n.*612T>A
XM_017021216.2:c.487+15T>A	XP_016876705.1:n.487+15T>A
XM_017021217.1:c.487+15T>A	XP_016876706.1:n.487+15T>A
NM_001099274.3:c.1129+15T>A MANE Select	NP_001092744.1:n.1129+15T>A
NM_001363668.2:c.1024+15T>A	NP_001350597.1:n.1024+15T>A