Canonical Allele Identifier: CA10644036

Gene: TINF2

Linked Data

• ClinVar Variation Id: 312966
• ClinVar RCV Id: RCV000325422 ; RCV000382167 ; RCV001560030
• dbSNP Id: rs35886534
• gnomAD v2: 14-24711804-C-T
• gnomAD v3: 14-24242598-C-T
• gnomAD v4: 14-24242598-C-T
• MyVariant Identifiers: chr14:g.24711804C>T (hg19) ; chr14:g.24242598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24242598C>T , CM000676.2:g.24242598C>T	GRCh38
NC_000014.8:g.24711804C>T , CM000676.1:g.24711804C>T	GRCh37
NC_000014.7:g.23781644C>T	NCBI36
NG_016650.1:g.5077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.38G>A
ENST00000699682.1:n.38G>A
ENST00000699683.1:n.29G>A
ENST00000699684.1:c.-266G>A	ENSP00000514523.1:n.-266G>A
ENST00000699689.1:n.32G>A
ENST00000699690.1:n.38G>A
ENST00000699691.1:n.38G>A
ENST00000699695.1:c.-266G>A	ENSP00000514526.1:n.-266G>A
ENST00000699696.1:n.38G>A
ENST00000699697.1:c.-266G>A	ENSP00000514527.1:n.-266G>A
ENST00000699700.1:n.38G>A
ENST00000699701.1:c.-266G>A	ENSP00000514528.1:n.-266G>A
ENST00000267415.12:c.-266G>A MANE Select	ENSP00000267415.7:n.-266G>A
ENST00000646753.1:c.-266G>A	ENSP00000494065.1:n.-266G>A
ENST00000267415.11:c.-266G>A	ENSP00000267415.7:n.-266G>A
ENST00000399423.8:c.-266G>A	ENSP00000382350.4:n.-266G>A
ENST00000558510.1:n.38G>A
ENST00000558566.1:c.-266G>A	ENSP00000453025.1:n.-266G>A
ENST00000559019.1:c.-266G>A	ENSP00000453675.1:n.-266G>A
ENST00000626689.2:c.-266G>A	ENSP00000486681.1:n.-266G>A
NM_001099274.1:c.-266G>A	NP_001092744.1:n.-266G>A
NM_012461.2:c.-266G>A	NP_036593.2:n.-266G>A
XM_005267528.2:c.-266G>A	XP_005267585.1:n.-266G>A
XM_005267529.2:c.-266G>A	XP_005267586.1:n.-266G>A
XM_011536642.1:c.-266G>A	XP_011534944.1:n.-266G>A
NM_001099274.2:c.-266G>A	NP_001092744.1:n.-266G>A
NM_001363668.1:c.-266G>A	NP_001350597.1:n.-266G>A
NM_012461.3:c.-266G>A	NP_036593.2:n.-266G>A
XM_011536642.2:c.-266G>A	XP_011534944.1:n.-266G>A
XM_017021216.2:c.-496G>A	XP_016876705.1:n.-496G>A
NM_001099274.3:c.-266G>A MANE Select	NP_001092744.1:n.-266G>A
NM_001363668.2:c.-266G>A	NP_001350597.1:n.-266G>A