Canonical Allele Identifier: CA389225191

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709806C>A (hg19) ; chr14:g.24240600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240600C>A , CM000676.2:g.24240600C>A	GRCh38
NC_000014.8:g.24709806C>A , CM000676.1:g.24709806C>A	GRCh37
NC_000014.7:g.23779646C>A	NCBI36
NG_016650.1:g.7075G>T
NG_054634.1:g.13184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1183G>T
ENST00000557921.3:c.772G>T	ENSP00000453157.3:p.Gly258Cys
ENST00000699682.1:n.1270G>T
ENST00000699683.1:n.1320G>T
ENST00000699684.1:c.*473G>T	ENSP00000514523.1:n.*473G>T
ENST00000699685.1:n.1084G>T
ENST00000699686.1:c.673G>T	ENSP00000514524.1:p.Gly225Cys
ENST00000699687.1:c.775G>T	ENSP00000514525.1:p.Gly259Cys
ENST00000699688.1:n.1080G>T
ENST00000699689.1:n.1436G>T
ENST00000699690.1:n.1633G>T
ENST00000699691.1:n.1777G>T
ENST00000699693.1:n.1297G>T
ENST00000699694.1:n.1539G>T
ENST00000699695.1:c.*252G>T	ENSP00000514526.1:n.*252G>T
ENST00000699696.1:n.1183G>T
ENST00000699697.1:c.880G>T	ENSP00000514527.1:p.Gly294Cys
ENST00000699698.1:n.801G>T
ENST00000699699.1:n.1204G>T
ENST00000699700.1:n.1327G>T
ENST00000699701.1:c.*260G>T	ENSP00000514528.1:n.*260G>T
ENST00000267415.12:c.880G>T MANE Select	ENSP00000267415.7:p.Gly294Cys
ENST00000557921.2:c.772G>T	ENSP00000453157.2:p.Gly258Cys
ENST00000646753.1:c.775G>T	ENSP00000494065.1:p.Gly259Cys
ENST00000267415.11:c.880G>T	ENSP00000267415.7:p.Gly294Cys
ENST00000399423.8:c.880G>T	ENSP00000382350.4:p.Gly294Cys
ENST00000558566.1:c.*252G>T	ENSP00000453025.1:n.*252G>T
ENST00000559019.1:c.*252G>T	ENSP00000453675.1:n.*252G>T
ENST00000559549.1:n.606G>T
ENST00000559969.5:c.757+79G>T
ENST00000626689.2:c.*252G>T	ENSP00000486681.1:n.*252G>T
NM_001099274.1:c.880G>T	NP_001092744.1:p.Gly294Cys
NM_012461.2:c.880G>T	NP_036593.2:p.Gly294Cys
XM_005267528.2:c.880G>T	XP_005267585.1:p.Gly294Cys
XM_005267529.2:c.775G>T	XP_005267586.1:p.Gly259Cys
NM_001099274.2:c.880G>T	NP_001092744.1:p.Gly294Cys
NM_001363668.1:c.775G>T	NP_001350597.1:p.Gly259Cys
NM_012461.3:c.880G>T	NP_036593.2:p.Gly294Cys
XM_011536642.2:c.*260G>T	XP_011534944.1:n.*260G>T
XM_017021216.2:c.238G>T	XP_016876705.1:p.Gly80Cys
XM_017021217.1:c.238G>T	XP_016876706.1:p.Gly80Cys
NM_001099274.3:c.880G>T MANE Select	NP_001092744.1:p.Gly294Cys
NM_001363668.2:c.775G>T	NP_001350597.1:p.Gly259Cys