Canonical Allele Identifier: CA7130506

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2975844
• ClinVar RCV Id: RCV003833930
• dbSNP Id: rs767141183
• ExAC: 14:24709538 T / C
• gnomAD v2: 14-24709538-T-C
• gnomAD v4: 14-24240332-T-C
• MyVariant Identifiers: chr14:g.24709538T>C (hg19) ; chr14:g.24240332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240332T>C , CM000676.2:g.24240332T>C	GRCh38
NC_000014.8:g.24709538T>C , CM000676.1:g.24709538T>C	GRCh37
NC_000014.7:g.23779378T>C	NCBI36
NG_016650.1:g.7343A>G
NG_054634.1:g.12916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1451A>G
ENST00000557921.3:c.*83A>G	ENSP00000453157.3:n.*83A>G
ENST00000699682.1:n.1538A>G
ENST00000699683.1:n.1588A>G
ENST00000699684.1:c.*741A>G	ENSP00000514523.1:n.*741A>G
ENST00000699685.1:n.1352A>G
ENST00000699686.1:c.*83A>G	ENSP00000514524.1:n.*83A>G
ENST00000699687.1:c.*83A>G	ENSP00000514525.1:n.*83A>G
ENST00000699688.1:n.1348A>G
ENST00000699689.1:n.1704A>G
ENST00000699690.1:n.1901A>G
ENST00000699691.1:n.2045A>G
ENST00000699693.1:n.1479-2A>G
ENST00000699694.1:n.1807A>G
ENST00000699695.1:c.*434-2A>G	ENSP00000514526.1:n.*434-2A>G
ENST00000699696.1:n.1451A>G
ENST00000699697.1:c.1062-2A>G	ENSP00000514527.1:n.1062-2A>G
ENST00000699698.1:n.983-2A>G
ENST00000699699.1:n.1472A>G
ENST00000699700.1:n.1595A>G
ENST00000699701.1:c.*528A>G	ENSP00000514528.1:n.*528A>G
ENST00000267415.12:c.1062-2A>G MANE Select	ENSP00000267415.7:n.1062-2A>G
ENST00000646753.1:c.957-2A>G	ENSP00000494065.1:n.957-2A>G
ENST00000267415.11:c.1062-2A>G	ENSP00000267415.7:n.1062-2A>G
ENST00000399423.8:c.*83A>G	ENSP00000382350.4:n.*83A>G
ENST00000557915.1:n.267A>G
ENST00000558566.1:c.*520A>G	ENSP00000453025.1:n.*520A>G
ENST00000559969.5:c.906A>G
ENST00000560019.5:c.57-2A>G	ENSP00000453113.1:n.57-2A>G
ENST00000626689.2:c.*434-2A>G	ENSP00000486681.1:n.*434-2A>G
NM_001099274.1:c.1062-2A>G	NP_001092744.1:n.1062-2A>G
NM_012461.2:c.*83A>G	NP_036593.2:n.*83A>G
XM_005267528.2:c.1062-2A>G	XP_005267585.1:n.1062-2A>G
XM_005267529.2:c.957-2A>G	XP_005267586.1:n.957-2A>G
NM_001099274.2:c.1062-2A>G	NP_001092744.1:n.1062-2A>G
NM_001363668.1:c.957-2A>G	NP_001350597.1:n.957-2A>G
NM_012461.3:c.*83A>G	NP_036593.2:n.*83A>G
XM_011536642.2:c.*528A>G	XP_011534944.1:n.*528A>G
XM_017021216.2:c.420-2A>G	XP_016876705.1:n.420-2A>G
XM_017021217.1:c.420-2A>G	XP_016876706.1:n.420-2A>G
NM_001099274.3:c.1062-2A>G MANE Select	NP_001092744.1:n.1062-2A>G
NM_001363668.2:c.957-2A>G	NP_001350597.1:n.957-2A>G