Canonical Allele Identifier: CA389225461

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2437094
• ClinVar RCV Id: RCV003141014
• MyVariant Identifiers: chr14:g.24709835G>T (hg19) ; chr14:g.24240629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240629G>T , CM000676.2:g.24240629G>T	GRCh38
NC_000014.8:g.24709835G>T , CM000676.1:g.24709835G>T	GRCh37
NC_000014.7:g.23779675G>T	NCBI36
NG_016650.1:g.7046C>A
NG_054634.1:g.13213G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1154C>A
ENST00000557921.3:c.743C>A	ENSP00000453157.3:p.Thr248Lys
ENST00000699682.1:n.1241C>A
ENST00000699683.1:n.1291C>A
ENST00000699684.1:c.*444C>A	ENSP00000514523.1:n.*444C>A
ENST00000699685.1:n.1055C>A
ENST00000699686.1:c.644C>A	ENSP00000514524.1:p.Thr215Lys
ENST00000699687.1:c.746C>A	ENSP00000514525.1:p.Thr249Lys
ENST00000699688.1:n.1051C>A
ENST00000699689.1:n.1407C>A
ENST00000699690.1:n.1604C>A
ENST00000699691.1:n.1748C>A
ENST00000699693.1:n.1268C>A
ENST00000699694.1:n.1510C>A
ENST00000699695.1:c.*223C>A	ENSP00000514526.1:n.*223C>A
ENST00000699696.1:n.1154C>A
ENST00000699697.1:c.851C>A	ENSP00000514527.1:p.Thr284Lys
ENST00000699698.1:n.772C>A
ENST00000699699.1:n.1175C>A
ENST00000699700.1:n.1298C>A
ENST00000699701.1:c.*231C>A	ENSP00000514528.1:n.*231C>A
ENST00000267415.12:c.851C>A MANE Select	ENSP00000267415.7:p.Thr284Lys
ENST00000557921.2:c.743C>A	ENSP00000453157.2:p.Thr248Lys
ENST00000646753.1:c.746C>A	ENSP00000494065.1:p.Thr249Lys
ENST00000267415.11:c.851C>A	ENSP00000267415.7:p.Thr284Lys
ENST00000399423.8:c.851C>A	ENSP00000382350.4:p.Thr284Lys
ENST00000558476.5:c.413C>A	ENSP00000452724.1:p.Thr138Lys
ENST00000558566.1:c.*223C>A	ENSP00000453025.1:n.*223C>A
ENST00000559019.1:c.*223C>A	ENSP00000453675.1:n.*223C>A
ENST00000559549.1:n.577C>A
ENST00000559969.5:c.757+50C>A
ENST00000626689.2:c.*223C>A	ENSP00000486681.1:n.*223C>A
NM_001099274.1:c.851C>A	NP_001092744.1:p.Thr284Lys
NM_012461.2:c.851C>A	NP_036593.2:p.Thr284Lys
XM_005267528.2:c.851C>A	XP_005267585.1:p.Thr284Lys
XM_005267529.2:c.746C>A	XP_005267586.1:p.Thr249Lys
NM_001099274.2:c.851C>A	NP_001092744.1:p.Thr284Lys
NM_001363668.1:c.746C>A	NP_001350597.1:p.Thr249Lys
NM_012461.3:c.851C>A	NP_036593.2:p.Thr284Lys
XM_011536642.2:c.*231C>A	XP_011534944.1:n.*231C>A
XM_017021216.2:c.209C>A	XP_016876705.1:p.Thr70Lys
XM_017021217.1:c.209C>A	XP_016876706.1:p.Thr70Lys
NM_001099274.3:c.851C>A MANE Select	NP_001092744.1:p.Thr284Lys
NM_001363668.2:c.746C>A	NP_001350597.1:p.Thr249Lys