Canonical Allele Identifier: CA257880921

Gene: TINF2

Linked Data

• dbSNP Id: rs907553811
• gnomAD v4: 14-24240628-T-A
• MyVariant Identifiers: chr14:g.24709834T>A (hg19) ; chr14:g.24240628T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240628T>A , CM000676.2:g.24240628T>A	GRCh38
NC_000014.8:g.24709834T>A , CM000676.1:g.24709834T>A	GRCh37
NC_000014.7:g.23779674T>A	NCBI36
NG_016650.1:g.7047A>T
NG_054634.1:g.13212T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1155A>T
ENST00000557921.3:c.744A>T	ENSP00000453157.3:p.Thr248=
ENST00000699682.1:n.1242A>T
ENST00000699683.1:n.1292A>T
ENST00000699684.1:c.*445A>T	ENSP00000514523.1:n.*445A>T
ENST00000699685.1:n.1056A>T
ENST00000699686.1:c.645A>T	ENSP00000514524.1:p.Thr215=
ENST00000699687.1:c.747A>T	ENSP00000514525.1:p.Thr249=
ENST00000699688.1:n.1052A>T
ENST00000699689.1:n.1408A>T
ENST00000699690.1:n.1605A>T
ENST00000699691.1:n.1749A>T
ENST00000699693.1:n.1269A>T
ENST00000699694.1:n.1511A>T
ENST00000699695.1:c.*224A>T	ENSP00000514526.1:n.*224A>T
ENST00000699696.1:n.1155A>T
ENST00000699697.1:c.852A>T	ENSP00000514527.1:p.Thr284=
ENST00000699698.1:n.773A>T
ENST00000699699.1:n.1176A>T
ENST00000699700.1:n.1299A>T
ENST00000699701.1:c.*232A>T	ENSP00000514528.1:n.*232A>T
ENST00000267415.12:c.852A>T MANE Select	ENSP00000267415.7:p.Thr284=
ENST00000557921.2:c.744A>T	ENSP00000453157.2:p.Thr248=
ENST00000646753.1:c.747A>T	ENSP00000494065.1:p.Thr249=
ENST00000267415.11:c.852A>T	ENSP00000267415.7:p.Thr284=
ENST00000399423.8:c.852A>T	ENSP00000382350.4:p.Thr284=
ENST00000558476.5:c.414A>T	ENSP00000452724.1:p.Thr138=
ENST00000558566.1:c.*224A>T	ENSP00000453025.1:n.*224A>T
ENST00000559019.1:c.*224A>T	ENSP00000453675.1:n.*224A>T
ENST00000559549.1:n.578A>T
ENST00000559969.5:c.757+51A>T
ENST00000626689.2:c.*224A>T	ENSP00000486681.1:n.*224A>T
NM_001099274.1:c.852A>T	NP_001092744.1:p.Thr284=
NM_012461.2:c.852A>T	NP_036593.2:p.Thr284=
XM_005267528.2:c.852A>T	XP_005267585.1:p.Thr284=
XM_005267529.2:c.747A>T	XP_005267586.1:p.Thr249=
NM_001099274.2:c.852A>T	NP_001092744.1:p.Thr284=
NM_001363668.1:c.747A>T	NP_001350597.1:p.Thr249=
NM_012461.3:c.852A>T	NP_036593.2:p.Thr284=
XM_011536642.2:c.*232A>T	XP_011534944.1:n.*232A>T
XM_017021216.2:c.210A>T	XP_016876705.1:p.Thr70=
XM_017021217.1:c.210A>T	XP_016876706.1:p.Thr70=
NM_001099274.3:c.852A>T MANE Select	NP_001092744.1:p.Thr284=
NM_001363668.2:c.747A>T	NP_001350597.1:p.Thr249=