Canonical Allele Identifier: CA389224248

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709731C>A (hg19) ; chr14:g.24240525C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240525C>A , CM000676.2:g.24240525C>A	GRCh38
NC_000014.8:g.24709731C>A , CM000676.1:g.24709731C>A	GRCh37
NC_000014.7:g.23779571C>A	NCBI36
NG_016650.1:g.7150G>T
NG_054634.1:g.13109C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1258G>T
ENST00000557921.3:c.847G>T	ENSP00000453157.3:p.Gly283Cys
ENST00000699682.1:n.1345G>T
ENST00000699683.1:n.1395G>T
ENST00000699684.1:c.*548G>T	ENSP00000514523.1:n.*548G>T
ENST00000699685.1:n.1159G>T
ENST00000699686.1:c.748G>T	ENSP00000514524.1:p.Gly250Cys
ENST00000699687.1:c.850G>T	ENSP00000514525.1:p.Gly284Cys
ENST00000699688.1:n.1155G>T
ENST00000699689.1:n.1511G>T
ENST00000699690.1:n.1708G>T
ENST00000699691.1:n.1852G>T
ENST00000699693.1:n.1372G>T
ENST00000699694.1:n.1614G>T
ENST00000699695.1:c.*327G>T	ENSP00000514526.1:n.*327G>T
ENST00000699696.1:n.1258G>T
ENST00000699697.1:c.955G>T	ENSP00000514527.1:p.Gly319Cys
ENST00000699698.1:n.876G>T
ENST00000699699.1:n.1279G>T
ENST00000699700.1:n.1402G>T
ENST00000699701.1:c.*335G>T	ENSP00000514528.1:n.*335G>T
ENST00000267415.12:c.955G>T MANE Select	ENSP00000267415.7:p.Gly319Cys
ENST00000557921.2:c.847G>T	ENSP00000453157.2:p.Gly283Cys
ENST00000646753.1:c.850G>T	ENSP00000494065.1:p.Gly284Cys
ENST00000267415.11:c.955G>T	ENSP00000267415.7:p.Gly319Cys
ENST00000399423.8:c.955G>T	ENSP00000382350.4:p.Gly319Cys
ENST00000557915.1:n.74G>T
ENST00000558566.1:c.*327G>T	ENSP00000453025.1:n.*327G>T
ENST00000559019.1:c.*327G>T	ENSP00000453675.1:n.*327G>T
ENST00000559969.5:c.758-45G>T
ENST00000626689.2:c.*327G>T	ENSP00000486681.1:n.*327G>T
NM_001099274.1:c.955G>T	NP_001092744.1:p.Gly319Cys
NM_012461.2:c.955G>T	NP_036593.2:p.Gly319Cys
XM_005267528.2:c.955G>T	XP_005267585.1:p.Gly319Cys
XM_005267529.2:c.850G>T	XP_005267586.1:p.Gly284Cys
NM_001099274.2:c.955G>T	NP_001092744.1:p.Gly319Cys
NM_001363668.1:c.850G>T	NP_001350597.1:p.Gly284Cys
NM_012461.3:c.955G>T	NP_036593.2:p.Gly319Cys
XM_011536642.2:c.*335G>T	XP_011534944.1:n.*335G>T
XM_017021216.2:c.313G>T	XP_016876705.1:p.Gly105Cys
XM_017021217.1:c.313G>T	XP_016876706.1:p.Gly105Cys
NM_001099274.3:c.955G>T MANE Select	NP_001092744.1:p.Gly319Cys
NM_001363668.2:c.850G>T	NP_001350597.1:p.Gly284Cys