Canonical Allele Identifier: CA257880847

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1618936
• ClinVar RCV Id: RCV002086357
• dbSNP Id: rs769661599
• gnomAD v2: 14-24709540-A-C
• gnomAD v4: 14-24240334-A-C
• MyVariant Identifiers: chr14:g.24709540A>C (hg19) ; chr14:g.24240334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240334A>C , CM000676.2:g.24240334A>C	GRCh38
NC_000014.8:g.24709540A>C , CM000676.1:g.24709540A>C	GRCh37
NC_000014.7:g.23779380A>C	NCBI36
NG_016650.1:g.7341T>G
NG_054634.1:g.12918A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1449T>G
ENST00000557921.3:c.*81T>G	ENSP00000453157.3:n.*81T>G
ENST00000699682.1:n.1536T>G
ENST00000699683.1:n.1586T>G
ENST00000699684.1:c.*739T>G	ENSP00000514523.1:n.*739T>G
ENST00000699685.1:n.1350T>G
ENST00000699686.1:c.*81T>G	ENSP00000514524.1:n.*81T>G
ENST00000699687.1:c.*81T>G	ENSP00000514525.1:n.*81T>G
ENST00000699688.1:n.1346T>G
ENST00000699689.1:n.1702T>G
ENST00000699690.1:n.1899T>G
ENST00000699691.1:n.2043T>G
ENST00000699693.1:n.1479-4T>G
ENST00000699694.1:n.1805T>G
ENST00000699695.1:c.*434-4T>G	ENSP00000514526.1:n.*434-4T>G
ENST00000699696.1:n.1449T>G
ENST00000699697.1:c.1062-4T>G	ENSP00000514527.1:n.1062-4T>G
ENST00000699698.1:n.983-4T>G
ENST00000699699.1:n.1470T>G
ENST00000699700.1:n.1593T>G
ENST00000699701.1:c.*526T>G	ENSP00000514528.1:n.*526T>G
ENST00000267415.12:c.1062-4T>G MANE Select	ENSP00000267415.7:n.1062-4T>G
ENST00000646753.1:c.957-4T>G	ENSP00000494065.1:n.957-4T>G
ENST00000267415.11:c.1062-4T>G	ENSP00000267415.7:n.1062-4T>G
ENST00000399423.8:c.*81T>G	ENSP00000382350.4:n.*81T>G
ENST00000557915.1:n.265T>G
ENST00000558566.1:c.*518T>G	ENSP00000453025.1:n.*518T>G
ENST00000559969.5:c.904T>G
ENST00000560019.5:c.57-4T>G	ENSP00000453113.1:n.57-4T>G
ENST00000626689.2:c.*434-4T>G	ENSP00000486681.1:n.*434-4T>G
NM_001099274.1:c.1062-4T>G	NP_001092744.1:n.1062-4T>G
NM_012461.2:c.*81T>G	NP_036593.2:n.*81T>G
XM_005267528.2:c.1062-4T>G	XP_005267585.1:n.1062-4T>G
XM_005267529.2:c.957-4T>G	XP_005267586.1:n.957-4T>G
NM_001099274.2:c.1062-4T>G	NP_001092744.1:n.1062-4T>G
NM_001363668.1:c.957-4T>G	NP_001350597.1:n.957-4T>G
NM_012461.3:c.*81T>G	NP_036593.2:n.*81T>G
XM_011536642.2:c.*526T>G	XP_011534944.1:n.*526T>G
XM_017021216.2:c.420-4T>G	XP_016876705.1:n.420-4T>G
XM_017021217.1:c.420-4T>G	XP_016876706.1:n.420-4T>G
NM_001099274.3:c.1062-4T>G MANE Select	NP_001092744.1:n.1062-4T>G
NM_001363668.2:c.957-4T>G	NP_001350597.1:n.957-4T>G