Canonical Allele Identifier: CA389224829

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2803084
• ClinVar RCV Id: RCV003646171
• MyVariant Identifiers: chr14:g.24709772C>T (hg19) ; chr14:g.24240566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240566C>T , CM000676.2:g.24240566C>T	GRCh38
NC_000014.8:g.24709772C>T , CM000676.1:g.24709772C>T	GRCh37
NC_000014.7:g.23779612C>T	NCBI36
NG_016650.1:g.7109G>A
NG_054634.1:g.13150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1217G>A
ENST00000557921.3:c.806G>A	ENSP00000453157.3:p.Ser269Asn
ENST00000699682.1:n.1304G>A
ENST00000699683.1:n.1354G>A
ENST00000699684.1:c.*507G>A	ENSP00000514523.1:n.*507G>A
ENST00000699685.1:n.1118G>A
ENST00000699686.1:c.707G>A	ENSP00000514524.1:p.Ser236Asn
ENST00000699687.1:c.809G>A	ENSP00000514525.1:p.Ser270Asn
ENST00000699688.1:n.1114G>A
ENST00000699689.1:n.1470G>A
ENST00000699690.1:n.1667G>A
ENST00000699691.1:n.1811G>A
ENST00000699693.1:n.1331G>A
ENST00000699694.1:n.1573G>A
ENST00000699695.1:c.*286G>A	ENSP00000514526.1:n.*286G>A
ENST00000699696.1:n.1217G>A
ENST00000699697.1:c.914G>A	ENSP00000514527.1:p.Ser305Asn
ENST00000699698.1:n.835G>A
ENST00000699699.1:n.1238G>A
ENST00000699700.1:n.1361G>A
ENST00000699701.1:c.*294G>A	ENSP00000514528.1:n.*294G>A
ENST00000267415.12:c.914G>A MANE Select	ENSP00000267415.7:p.Ser305Asn
ENST00000557921.2:c.806G>A	ENSP00000453157.2:p.Ser269Asn
ENST00000646753.1:c.809G>A	ENSP00000494065.1:p.Ser270Asn
ENST00000267415.11:c.914G>A	ENSP00000267415.7:p.Ser305Asn
ENST00000399423.8:c.914G>A	ENSP00000382350.4:p.Ser305Asn
ENST00000557915.1:n.33G>A
ENST00000558566.1:c.*286G>A	ENSP00000453025.1:n.*286G>A
ENST00000559019.1:c.*286G>A	ENSP00000453675.1:n.*286G>A
ENST00000559969.5:c.758-86G>A
ENST00000626689.2:c.*286G>A	ENSP00000486681.1:n.*286G>A
NM_001099274.1:c.914G>A	NP_001092744.1:p.Ser305Asn
NM_012461.2:c.914G>A	NP_036593.2:p.Ser305Asn
XM_005267528.2:c.914G>A	XP_005267585.1:p.Ser305Asn
XM_005267529.2:c.809G>A	XP_005267586.1:p.Ser270Asn
NM_001099274.2:c.914G>A	NP_001092744.1:p.Ser305Asn
NM_001363668.1:c.809G>A	NP_001350597.1:p.Ser270Asn
NM_012461.3:c.914G>A	NP_036593.2:p.Ser305Asn
XM_011536642.2:c.*294G>A	XP_011534944.1:n.*294G>A
XM_017021216.2:c.272G>A	XP_016876705.1:p.Ser91Asn
XM_017021217.1:c.272G>A	XP_016876706.1:p.Ser91Asn
NM_001099274.3:c.914G>A MANE Select	NP_001092744.1:p.Ser305Asn
NM_001363668.2:c.809G>A	NP_001350597.1:p.Ser270Asn