Canonical Allele Identifier: CA389224087

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709712G>A (hg19) ; chr14:g.24240506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240506G>A , CM000676.2:g.24240506G>A	GRCh38
NC_000014.8:g.24709712G>A , CM000676.1:g.24709712G>A	GRCh37
NC_000014.7:g.23779552G>A	NCBI36
NG_016650.1:g.7169C>T
NG_054634.1:g.13090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1277C>T
ENST00000557921.3:c.866C>T	ENSP00000453157.3:p.Thr289Ile
ENST00000699682.1:n.1364C>T
ENST00000699683.1:n.1414C>T
ENST00000699684.1:c.*567C>T	ENSP00000514523.1:n.*567C>T
ENST00000699685.1:n.1178C>T
ENST00000699686.1:c.767C>T	ENSP00000514524.1:p.Thr256Ile
ENST00000699687.1:c.869C>T	ENSP00000514525.1:p.Thr290Ile
ENST00000699688.1:n.1174C>T
ENST00000699689.1:n.1530C>T
ENST00000699690.1:n.1727C>T
ENST00000699691.1:n.1871C>T
ENST00000699693.1:n.1391C>T
ENST00000699694.1:n.1633C>T
ENST00000699695.1:c.*346C>T	ENSP00000514526.1:n.*346C>T
ENST00000699696.1:n.1277C>T
ENST00000699697.1:c.974C>T	ENSP00000514527.1:p.Thr325Ile
ENST00000699698.1:n.895C>T
ENST00000699699.1:n.1298C>T
ENST00000699700.1:n.1421C>T
ENST00000699701.1:c.*354C>T	ENSP00000514528.1:n.*354C>T
ENST00000267415.12:c.974C>T MANE Select	ENSP00000267415.7:p.Thr325Ile
ENST00000557921.2:c.866C>T	ENSP00000453157.2:p.Thr289Ile
ENST00000646753.1:c.869C>T	ENSP00000494065.1:p.Thr290Ile
ENST00000267415.11:c.974C>T	ENSP00000267415.7:p.Thr325Ile
ENST00000399423.8:c.974C>T	ENSP00000382350.4:p.Thr325Ile
ENST00000557915.1:n.93C>T
ENST00000558566.1:c.*346C>T	ENSP00000453025.1:n.*346C>T
ENST00000559019.1:c.*346C>T	ENSP00000453675.1:n.*346C>T
ENST00000559969.5:c.758-26C>T
ENST00000626689.2:c.*346C>T	ENSP00000486681.1:n.*346C>T
NM_001099274.1:c.974C>T	NP_001092744.1:p.Thr325Ile
NM_012461.2:c.974C>T	NP_036593.2:p.Thr325Ile
XM_005267528.2:c.974C>T	XP_005267585.1:p.Thr325Ile
XM_005267529.2:c.869C>T	XP_005267586.1:p.Thr290Ile
NM_001099274.2:c.974C>T	NP_001092744.1:p.Thr325Ile
NM_001363668.1:c.869C>T	NP_001350597.1:p.Thr290Ile
NM_012461.3:c.974C>T	NP_036593.2:p.Thr325Ile
XM_011536642.2:c.*354C>T	XP_011534944.1:n.*354C>T
XM_017021216.2:c.332C>T	XP_016876705.1:p.Thr111Ile
XM_017021217.1:c.332C>T	XP_016876706.1:p.Thr111Ile
NM_001099274.3:c.974C>T MANE Select	NP_001092744.1:p.Thr325Ile
NM_001363668.2:c.869C>T	NP_001350597.1:p.Thr290Ile