Canonical Allele Identifier: CA7130545

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1460572
• ClinVar RCV Id: RCV001951661
• dbSNP Id: rs745711329
• ExAC: 14:24709758 C / T
• gnomAD v2: 14-24709758-C-T
• gnomAD v3: 14-24240552-C-T
• gnomAD v4: 14-24240552-C-T
• MyVariant Identifiers: chr14:g.24709758C>T (hg19) ; chr14:g.24240552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240552C>T , CM000676.2:g.24240552C>T	GRCh38
NC_000014.8:g.24709758C>T , CM000676.1:g.24709758C>T	GRCh37
NC_000014.7:g.23779598C>T	NCBI36
NG_016650.1:g.7123G>A
NG_054634.1:g.13136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1231G>A
ENST00000557921.3:c.820G>A	ENSP00000453157.3:p.Ala274Thr
ENST00000699682.1:n.1318G>A
ENST00000699683.1:n.1368G>A
ENST00000699684.1:c.*521G>A	ENSP00000514523.1:n.*521G>A
ENST00000699685.1:n.1132G>A
ENST00000699686.1:c.721G>A	ENSP00000514524.1:p.Ala241Thr
ENST00000699687.1:c.823G>A	ENSP00000514525.1:p.Ala275Thr
ENST00000699688.1:n.1128G>A
ENST00000699689.1:n.1484G>A
ENST00000699690.1:n.1681G>A
ENST00000699691.1:n.1825G>A
ENST00000699693.1:n.1345G>A
ENST00000699694.1:n.1587G>A
ENST00000699695.1:c.*300G>A	ENSP00000514526.1:n.*300G>A
ENST00000699696.1:n.1231G>A
ENST00000699697.1:c.928G>A	ENSP00000514527.1:p.Ala310Thr
ENST00000699698.1:n.849G>A
ENST00000699699.1:n.1252G>A
ENST00000699700.1:n.1375G>A
ENST00000699701.1:c.*308G>A	ENSP00000514528.1:n.*308G>A
ENST00000267415.12:c.928G>A MANE Select	ENSP00000267415.7:p.Ala310Thr
ENST00000557921.2:c.820G>A	ENSP00000453157.2:p.Ala274Thr
ENST00000646753.1:c.823G>A	ENSP00000494065.1:p.Ala275Thr
ENST00000267415.11:c.928G>A	ENSP00000267415.7:p.Ala310Thr
ENST00000399423.8:c.928G>A	ENSP00000382350.4:p.Ala310Thr
ENST00000557915.1:n.47G>A
ENST00000558566.1:c.*300G>A	ENSP00000453025.1:n.*300G>A
ENST00000559019.1:c.*300G>A	ENSP00000453675.1:n.*300G>A
ENST00000559969.5:c.758-72G>A
ENST00000626689.2:c.*300G>A	ENSP00000486681.1:n.*300G>A
NM_001099274.1:c.928G>A	NP_001092744.1:p.Ala310Thr
NM_012461.2:c.928G>A	NP_036593.2:p.Ala310Thr
XM_005267528.2:c.928G>A	XP_005267585.1:p.Ala310Thr
XM_005267529.2:c.823G>A	XP_005267586.1:p.Ala275Thr
NM_001099274.2:c.928G>A	NP_001092744.1:p.Ala310Thr
NM_001363668.1:c.823G>A	NP_001350597.1:p.Ala275Thr
NM_012461.3:c.928G>A	NP_036593.2:p.Ala310Thr
XM_011536642.2:c.*308G>A	XP_011534944.1:n.*308G>A
XM_017021216.2:c.286G>A	XP_016876705.1:p.Ala96Thr
XM_017021217.1:c.286G>A	XP_016876706.1:p.Ala96Thr
NM_001099274.3:c.928G>A MANE Select	NP_001092744.1:p.Ala310Thr
NM_001363668.2:c.823G>A	NP_001350597.1:p.Ala275Thr