Canonical Allele Identifier: CA389224895

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1713990
• ClinVar RCV Id: RCV002296973
• gnomAD v4: 14-24240574-C-G
• MyVariant Identifiers: chr14:g.24709780C>G (hg19) ; chr14:g.24240574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240574C>G , CM000676.2:g.24240574C>G	GRCh38
NC_000014.8:g.24709780C>G , CM000676.1:g.24709780C>G	GRCh37
NC_000014.7:g.23779620C>G	NCBI36
NG_016650.1:g.7101G>C
NG_054634.1:g.13158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1209G>C
ENST00000557921.3:c.798G>C	ENSP00000453157.3:p.Lys266Asn
ENST00000699682.1:n.1296G>C
ENST00000699683.1:n.1346G>C
ENST00000699684.1:c.*499G>C	ENSP00000514523.1:n.*499G>C
ENST00000699685.1:n.1110G>C
ENST00000699686.1:c.699G>C	ENSP00000514524.1:p.Lys233Asn
ENST00000699687.1:c.801G>C	ENSP00000514525.1:p.Lys267Asn
ENST00000699688.1:n.1106G>C
ENST00000699689.1:n.1462G>C
ENST00000699690.1:n.1659G>C
ENST00000699691.1:n.1803G>C
ENST00000699693.1:n.1323G>C
ENST00000699694.1:n.1565G>C
ENST00000699695.1:c.*278G>C	ENSP00000514526.1:n.*278G>C
ENST00000699696.1:n.1209G>C
ENST00000699697.1:c.906G>C	ENSP00000514527.1:p.Lys302Asn
ENST00000699698.1:n.827G>C
ENST00000699699.1:n.1230G>C
ENST00000699700.1:n.1353G>C
ENST00000699701.1:c.*286G>C	ENSP00000514528.1:n.*286G>C
ENST00000267415.12:c.906G>C MANE Select	ENSP00000267415.7:p.Lys302Asn
ENST00000557921.2:c.798G>C	ENSP00000453157.2:p.Lys266Asn
ENST00000646753.1:c.801G>C	ENSP00000494065.1:p.Lys267Asn
ENST00000267415.11:c.906G>C	ENSP00000267415.7:p.Lys302Asn
ENST00000399423.8:c.906G>C	ENSP00000382350.4:p.Lys302Asn
ENST00000557915.1:n.25G>C
ENST00000558566.1:c.*278G>C	ENSP00000453025.1:n.*278G>C
ENST00000559019.1:c.*278G>C	ENSP00000453675.1:n.*278G>C
ENST00000559969.5:c.758-94G>C
ENST00000626689.2:c.*278G>C	ENSP00000486681.1:n.*278G>C
NM_001099274.1:c.906G>C	NP_001092744.1:p.Lys302Asn
NM_012461.2:c.906G>C	NP_036593.2:p.Lys302Asn
XM_005267528.2:c.906G>C	XP_005267585.1:p.Lys302Asn
XM_005267529.2:c.801G>C	XP_005267586.1:p.Lys267Asn
NM_001099274.2:c.906G>C	NP_001092744.1:p.Lys302Asn
NM_001363668.1:c.801G>C	NP_001350597.1:p.Lys267Asn
NM_012461.3:c.906G>C	NP_036593.2:p.Lys302Asn
XM_011536642.2:c.*286G>C	XP_011534944.1:n.*286G>C
XM_017021216.2:c.264G>C	XP_016876705.1:p.Lys88Asn
XM_017021217.1:c.264G>C	XP_016876706.1:p.Lys88Asn
NM_001099274.3:c.906G>C MANE Select	NP_001092744.1:p.Lys302Asn
NM_001363668.2:c.801G>C	NP_001350597.1:p.Lys267Asn