Canonical Allele Identifier: CA389224212

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240521-G-A
• MyVariant Identifiers: chr14:g.24709727G>A (hg19) ; chr14:g.24240521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240521G>A , CM000676.2:g.24240521G>A	GRCh38
NC_000014.8:g.24709727G>A , CM000676.1:g.24709727G>A	GRCh37
NC_000014.7:g.23779567G>A	NCBI36
NG_016650.1:g.7154C>T
NG_054634.1:g.13105G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1262C>T
ENST00000557921.3:c.851C>T	ENSP00000453157.3:p.Thr284Ile
ENST00000699682.1:n.1349C>T
ENST00000699683.1:n.1399C>T
ENST00000699684.1:c.*552C>T	ENSP00000514523.1:n.*552C>T
ENST00000699685.1:n.1163C>T
ENST00000699686.1:c.752C>T	ENSP00000514524.1:p.Thr251Ile
ENST00000699687.1:c.854C>T	ENSP00000514525.1:p.Thr285Ile
ENST00000699688.1:n.1159C>T
ENST00000699689.1:n.1515C>T
ENST00000699690.1:n.1712C>T
ENST00000699691.1:n.1856C>T
ENST00000699693.1:n.1376C>T
ENST00000699694.1:n.1618C>T
ENST00000699695.1:c.*331C>T	ENSP00000514526.1:n.*331C>T
ENST00000699696.1:n.1262C>T
ENST00000699697.1:c.959C>T	ENSP00000514527.1:p.Thr320Ile
ENST00000699698.1:n.880C>T
ENST00000699699.1:n.1283C>T
ENST00000699700.1:n.1406C>T
ENST00000699701.1:c.*339C>T	ENSP00000514528.1:n.*339C>T
ENST00000267415.12:c.959C>T MANE Select	ENSP00000267415.7:p.Thr320Ile
ENST00000557921.2:c.851C>T	ENSP00000453157.2:p.Thr284Ile
ENST00000646753.1:c.854C>T	ENSP00000494065.1:p.Thr285Ile
ENST00000267415.11:c.959C>T	ENSP00000267415.7:p.Thr320Ile
ENST00000399423.8:c.959C>T	ENSP00000382350.4:p.Thr320Ile
ENST00000557915.1:n.78C>T
ENST00000558566.1:c.*331C>T	ENSP00000453025.1:n.*331C>T
ENST00000559019.1:c.*331C>T	ENSP00000453675.1:n.*331C>T
ENST00000559969.5:c.758-41C>T
ENST00000626689.2:c.*331C>T	ENSP00000486681.1:n.*331C>T
NM_001099274.1:c.959C>T	NP_001092744.1:p.Thr320Ile
NM_012461.2:c.959C>T	NP_036593.2:p.Thr320Ile
XM_005267528.2:c.959C>T	XP_005267585.1:p.Thr320Ile
XM_005267529.2:c.854C>T	XP_005267586.1:p.Thr285Ile
NM_001099274.2:c.959C>T	NP_001092744.1:p.Thr320Ile
NM_001363668.1:c.854C>T	NP_001350597.1:p.Thr285Ile
NM_012461.3:c.959C>T	NP_036593.2:p.Thr320Ile
XM_011536642.2:c.*339C>T	XP_011534944.1:n.*339C>T
XM_017021216.2:c.317C>T	XP_016876705.1:p.Thr106Ile
XM_017021217.1:c.317C>T	XP_016876706.1:p.Thr106Ile
NM_001099274.3:c.959C>T MANE Select	NP_001092744.1:p.Thr320Ile
NM_001363668.2:c.854C>T	NP_001350597.1:p.Thr285Ile