Canonical Allele Identifier: CA389223971

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709701T>A (hg19) ; chr14:g.24240495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240495T>A , CM000676.2:g.24240495T>A	GRCh38
NC_000014.8:g.24709701T>A , CM000676.1:g.24709701T>A	GRCh37
NC_000014.7:g.23779541T>A	NCBI36
NG_016650.1:g.7180A>T
NG_054634.1:g.13079T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1288A>T
ENST00000557921.3:c.877A>T	ENSP00000453157.3:p.Lys293Ter
ENST00000699682.1:n.1375A>T
ENST00000699683.1:n.1425A>T
ENST00000699684.1:c.*578A>T	ENSP00000514523.1:n.*578A>T
ENST00000699685.1:n.1189A>T
ENST00000699686.1:c.778A>T	ENSP00000514524.1:p.Lys260Ter
ENST00000699687.1:c.880A>T	ENSP00000514525.1:p.Lys294Ter
ENST00000699688.1:n.1185A>T
ENST00000699689.1:n.1541A>T
ENST00000699690.1:n.1738A>T
ENST00000699691.1:n.1882A>T
ENST00000699693.1:n.1402A>T
ENST00000699694.1:n.1644A>T
ENST00000699695.1:c.*357A>T	ENSP00000514526.1:n.*357A>T
ENST00000699696.1:n.1288A>T
ENST00000699697.1:c.985A>T	ENSP00000514527.1:p.Lys329Ter
ENST00000699698.1:n.906A>T
ENST00000699699.1:n.1309A>T
ENST00000699700.1:n.1432A>T
ENST00000699701.1:c.*365A>T	ENSP00000514528.1:n.*365A>T
ENST00000267415.12:c.985A>T MANE Select	ENSP00000267415.7:p.Lys329Ter
ENST00000646753.1:c.880A>T	ENSP00000494065.1:p.Lys294Ter
ENST00000267415.11:c.985A>T	ENSP00000267415.7:p.Lys329Ter
ENST00000399423.8:c.985A>T	ENSP00000382350.4:p.Lys329Ter
ENST00000557915.1:n.104A>T
ENST00000558566.1:c.*357A>T	ENSP00000453025.1:n.*357A>T
ENST00000559019.1:c.*357A>T	ENSP00000453675.1:n.*357A>T
ENST00000559969.5:c.758-15A>T
ENST00000626689.2:c.*357A>T	ENSP00000486681.1:n.*357A>T
NM_001099274.1:c.985A>T	NP_001092744.1:p.Lys329Ter
NM_012461.2:c.985A>T	NP_036593.2:p.Lys329Ter
XM_005267528.2:c.985A>T	XP_005267585.1:p.Lys329Ter
XM_005267529.2:c.880A>T	XP_005267586.1:p.Lys294Ter
NM_001099274.2:c.985A>T	NP_001092744.1:p.Lys329Ter
NM_001363668.1:c.880A>T	NP_001350597.1:p.Lys294Ter
NM_012461.3:c.985A>T	NP_036593.2:p.Lys329Ter
XM_011536642.2:c.*365A>T	XP_011534944.1:n.*365A>T
XM_017021216.2:c.343A>T	XP_016876705.1:p.Lys115Ter
XM_017021217.1:c.343A>T	XP_016876706.1:p.Lys115Ter
NM_001099274.3:c.985A>T MANE Select	NP_001092744.1:p.Lys329Ter
NM_001363668.2:c.880A>T	NP_001350597.1:p.Lys294Ter