Canonical Allele Identifier: CA389225457

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709835G>A (hg19) ; chr14:g.24240629G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1154C>T
ENST00000557921.3:c.743C>T	ENSP00000453157.3:p.Thr248Ile
ENST00000699682.1:n.1241C>T
ENST00000699683.1:n.1291C>T
ENST00000699684.1:c.*444C>T	ENSP00000514523.1:n.*444C>T
ENST00000699685.1:n.1055C>T
ENST00000699686.1:c.644C>T	ENSP00000514524.1:p.Thr215Ile
ENST00000699687.1:c.746C>T	ENSP00000514525.1:p.Thr249Ile
ENST00000699688.1:n.1051C>T
ENST00000699689.1:n.1407C>T
ENST00000699690.1:n.1604C>T
ENST00000699691.1:n.1748C>T
ENST00000699693.1:n.1268C>T
ENST00000699694.1:n.1510C>T
ENST00000699695.1:c.*223C>T	ENSP00000514526.1:n.*223C>T
ENST00000699696.1:n.1154C>T
ENST00000699697.1:c.851C>T	ENSP00000514527.1:p.Thr284Ile
ENST00000699698.1:n.772C>T
ENST00000699699.1:n.1175C>T
ENST00000699700.1:n.1298C>T
ENST00000699701.1:c.*231C>T	ENSP00000514528.1:n.*231C>T
ENST00000267415.12:c.851C>T MANE Select	ENSP00000267415.7:p.Thr284Ile
ENST00000557921.2:c.743C>T	ENSP00000453157.2:p.Thr248Ile
ENST00000646753.1:c.746C>T	ENSP00000494065.1:p.Thr249Ile
ENST00000267415.11:c.851C>T	ENSP00000267415.7:p.Thr284Ile
ENST00000399423.8:c.851C>T	ENSP00000382350.4:p.Thr284Ile
ENST00000558476.5:c.413C>T	ENSP00000452724.1:p.Thr138Ile
ENST00000558566.1:c.*223C>T	ENSP00000453025.1:n.*223C>T
ENST00000559019.1:c.*223C>T	ENSP00000453675.1:n.*223C>T
ENST00000559549.1:n.577C>T
ENST00000559969.5:c.757+50C>T
ENST00000626689.2:c.*223C>T	ENSP00000486681.1:n.*223C>T
NM_001099274.1:c.851C>T	NP_001092744.1:p.Thr284Ile
NM_012461.2:c.851C>T	NP_036593.2:p.Thr284Ile
XM_005267528.2:c.851C>T	XP_005267585.1:p.Thr284Ile
XM_005267529.2:c.746C>T	XP_005267586.1:p.Thr249Ile
NM_001099274.2:c.851C>T	NP_001092744.1:p.Thr284Ile
NM_001363668.1:c.746C>T	NP_001350597.1:p.Thr249Ile
NM_012461.3:c.851C>T	NP_036593.2:p.Thr284Ile
XM_011536642.2:c.*231C>T	XP_011534944.1:n.*231C>T
XM_017021216.2:c.209C>T	XP_016876705.1:p.Thr70Ile
XM_017021217.1:c.209C>T	XP_016876706.1:p.Thr70Ile
NM_001099274.3:c.851C>T MANE Select	NP_001092744.1:p.Thr284Ile
NM_001363668.2:c.746C>T	NP_001350597.1:p.Thr249Ile