Canonical Allele Identifier: CA7130503

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1445405
• ClinVar RCV Id: RCV001985024
• dbSNP Id: rs368350757
• ExAC: 14:24709522 C / T
• gnomAD v2: 14-24709522-C-T
• gnomAD v3: 14-24240316-C-T
• gnomAD v4: 14-24240316-C-T
• MyVariant Identifiers: chr14:g.24709522C>T (hg19) ; chr14:g.24709522_24709523delinsTA (hg19) ; chr14:g.24240316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240316C>T , CM000676.2:g.24240316C>T	GRCh38
NC_000014.8:g.24709522C>T , CM000676.1:g.24709522C>T	GRCh37
NC_000014.7:g.23779362C>T	NCBI36
NG_016650.1:g.7359G>A
NG_054634.1:g.12900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1467G>A
ENST00000557921.3:c.*99G>A	ENSP00000453157.3:n.*99G>A
ENST00000699682.1:n.1554G>A
ENST00000699683.1:n.1604G>A
ENST00000699684.1:c.*757G>A	ENSP00000514523.1:n.*757G>A
ENST00000699685.1:n.1368G>A
ENST00000699686.1:c.*99G>A	ENSP00000514524.1:n.*99G>A
ENST00000699687.1:c.*99G>A	ENSP00000514525.1:n.*99G>A
ENST00000699688.1:n.1364G>A
ENST00000699689.1:n.1720G>A
ENST00000699690.1:n.1917G>A
ENST00000699691.1:n.2061G>A
ENST00000699692.1:n.15G>A
ENST00000699693.1:n.1493G>A
ENST00000699694.1:n.1823G>A
ENST00000699695.1:c.*448G>A	ENSP00000514526.1:n.*448G>A
ENST00000699696.1:n.1467G>A
ENST00000699697.1:c.1076G>A	ENSP00000514527.1:p.Cys359Tyr
ENST00000699698.1:n.997G>A
ENST00000699699.1:n.1488G>A
ENST00000699700.1:n.1611G>A
ENST00000699701.1:c.*544G>A	ENSP00000514528.1:n.*544G>A
ENST00000267415.12:c.1076G>A MANE Select	ENSP00000267415.7:p.Cys359Tyr
ENST00000646753.1:c.971G>A	ENSP00000494065.1:p.Cys324Tyr
ENST00000267415.11:c.1076G>A	ENSP00000267415.7:p.Cys359Tyr
ENST00000399423.8:c.*99G>A	ENSP00000382350.4:n.*99G>A
ENST00000557915.1:n.283G>A
ENST00000558566.1:c.*536G>A	ENSP00000453025.1:n.*536G>A
ENST00000559969.5:c.922G>A
ENST00000560019.5:c.71G>A	ENSP00000453113.1:p.Cys24Tyr
ENST00000626689.2:c.*448G>A	ENSP00000486681.1:n.*448G>A
NM_001099274.1:c.1076G>A	NP_001092744.1:p.Cys359Tyr
NM_012461.2:c.*99G>A	NP_036593.2:n.*99G>A
XM_005267528.2:c.1076G>A	XP_005267585.1:p.Cys359Tyr
XM_005267529.2:c.971G>A	XP_005267586.1:p.Cys324Tyr
NM_001099274.2:c.1076G>A	NP_001092744.1:p.Cys359Tyr
NM_001363668.1:c.971G>A	NP_001350597.1:p.Cys324Tyr
NM_012461.3:c.*99G>A	NP_036593.2:n.*99G>A
XM_011536642.2:c.*544G>A	XP_011534944.1:n.*544G>A
XM_017021216.2:c.434G>A	XP_016876705.1:p.Cys145Tyr
XM_017021217.1:c.434G>A	XP_016876706.1:p.Cys145Tyr
NM_001099274.3:c.1076G>A MANE Select	NP_001092744.1:p.Cys359Tyr
NM_001363668.2:c.971G>A	NP_001350597.1:p.Cys324Tyr