Canonical Allele Identifier: CA7130433

Gene: TINF2

Linked Data

• ClinVar Variation Id: 238288
• ClinVar RCV Id: RCV000228456 ; RCV000272534 ; RCV000364876 ; RCV001567869 ; RCV003977649 ; RCV002487054
• dbSNP Id: rs117234138
• ExAC: 14:24709123 G / A
• gnomAD v2: 14-24709123-G-A
• gnomAD v3: 14-24239917-G-A
• gnomAD v4: 14-24239917-G-A
• MyVariant Identifiers: chr14:g.24709123G>A (hg19) ; chr14:g.24239917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24239917G>A , CM000676.2:g.24239917G>A	GRCh38
NC_000014.8:g.24709123G>A , CM000676.1:g.24709123G>A	GRCh37
NC_000014.7:g.23778963G>A	NCBI36
NG_016650.1:g.7758C>T
NG_054634.1:g.12501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1627C>T
ENST00000557921.3:c.*498C>T	ENSP00000453157.3:n.*498C>T
ENST00000699682.1:n.1953C>T
ENST00000699683.1:n.2003C>T
ENST00000699684.1:c.*1156C>T	ENSP00000514523.1:n.*1156C>T
ENST00000699685.1:n.1767C>T
ENST00000699686.1:c.*498C>T	ENSP00000514524.1:n.*498C>T
ENST00000699687.1:c.*498C>T	ENSP00000514525.1:n.*498C>T
ENST00000699688.1:n.1763C>T
ENST00000699689.1:n.2119C>T
ENST00000699690.1:n.2316C>T
ENST00000699691.1:n.2460C>T
ENST00000699692.1:n.335C>T
ENST00000699693.1:n.1785C>T
ENST00000699694.1:n.2222C>T
ENST00000699695.1:c.*740C>T	ENSP00000514526.1:n.*740C>T
ENST00000699696.1:n.1759C>T
ENST00000699697.1:c.*338C>T	ENSP00000514527.1:n.*338C>T
ENST00000699698.1:n.1396C>T
ENST00000699699.1:n.1887C>T
ENST00000699700.1:n.2010C>T
ENST00000699701.1:c.*943C>T	ENSP00000514528.1:n.*943C>T
ENST00000267415.12:c.1236C>T MANE Select	ENSP00000267415.7:p.Asn412=
ENST00000646753.1:c.1131C>T	ENSP00000494065.1:p.Asn377=
ENST00000267415.11:c.1236C>T	ENSP00000267415.7:p.Asn412=
ENST00000399423.8:c.*498C>T	ENSP00000382350.4:n.*498C>T
ENST00000557915.1:n.443C>T
ENST00000558566.1:c.*935C>T	ENSP00000453025.1:n.*935C>T
ENST00000558703.1:n.194C>T
ENST00000559969.5:c.1321C>T
ENST00000560019.5:c.363C>T	ENSP00000453113.1:n.363C>T
ENST00000626689.2:c.*608C>T	ENSP00000486681.1:n.*608C>T
NM_001099274.1:c.1236C>T	NP_001092744.1:p.Asn412=
NM_012461.2:c.*498C>T	NP_036593.2:n.*498C>T
XM_005267528.2:c.1221+147C>T	XP_005267585.1:n.1221+147C>T
XM_005267529.2:c.1131C>T	XP_005267586.1:p.Asn377=
NM_001099274.2:c.1236C>T	NP_001092744.1:p.Asn412=
NM_001363668.1:c.1131C>T	NP_001350597.1:p.Asn377=
NM_012461.3:c.*498C>T	NP_036593.2:n.*498C>T
XM_011536642.2:c.*943C>T	XP_011534944.1:n.*943C>T
XM_017021216.2:c.594C>T	XP_016876705.1:p.Asn198=
XM_017021217.1:c.594C>T	XP_016876706.1:p.Asn198=
NM_001099274.3:c.1236C>T MANE Select	NP_001092744.1:p.Asn412=
NM_001363668.2:c.1131C>T	NP_001350597.1:p.Asn377=