Canonical Allele Identifier: CA7130412

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24239846G>A , CM000676.2:g.24239846G>A	GRCh38
NC_000014.8:g.24709052G>A , CM000676.1:g.24709052G>A	GRCh37
NC_000014.7:g.23778892G>A	NCBI36
NG_016650.1:g.7829C>T
NG_054634.1:g.12430G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.1307C>T MANE Select	NP_001092744.1:p.Ala436Val
ENST00000267415.12:c.1307C>T MANE Select	ENSP00000267415.7:p.Ala436Val
NM_001099274.1:c.1307C>T	NP_001092744.1:p.Ala436Val
NM_001099274.2:c.1307C>T	NP_001092744.1:p.Ala436Val
NM_001363668.1:c.1202C>T	NP_001350597.1:p.Ala401Val
NM_001363668.2:c.1202C>T	NP_001350597.1:p.Ala401Val
NM_012461.2:c.*569C>T	NP_036593.2:n.*569C>T
NM_012461.3:c.*569C>T	NP_036593.2:n.*569C>T
ENST00000267415.11:c.1307C>T	ENSP00000267415.7:p.Ala436Val
ENST00000399423.8:c.*569C>T	ENSP00000382350.4:n.*569C>T
ENST00000557915.1:n.514C>T
ENST00000557915.2:n.1698C>T
ENST00000557921.3:c.*569C>T	ENSP00000453157.3:n.*569C>T
ENST00000558566.1:c.*1006C>T	ENSP00000453025.1:n.*1006C>T
ENST00000558703.1:n.265C>T
ENST00000559969.5:c.1392C>T
ENST00000560019.5:c.434C>T	ENSP00000453113.1:n.434C>T
ENST00000626689.2:c.*679C>T	ENSP00000486681.1:n.*679C>T
ENST00000646753.1:c.1202C>T	ENSP00000494065.1:p.Ala401Val
ENST00000699682.1:n.2024C>T
ENST00000699683.1:n.2074C>T
ENST00000699684.1:c.*1227C>T	ENSP00000514523.1:n.*1227C>T
ENST00000699685.1:n.1838C>T
ENST00000699686.1:c.*569C>T	ENSP00000514524.1:n.*569C>T
ENST00000699687.1:c.*569C>T	ENSP00000514525.1:n.*569C>T
ENST00000699688.1:n.1834C>T
ENST00000699689.1:n.2190C>T
ENST00000699690.1:n.2387C>T
ENST00000699691.1:n.2531C>T
ENST00000699692.1:n.406C>T
ENST00000699693.1:n.1856C>T
ENST00000699694.1:n.2293C>T
ENST00000699695.1:c.*811C>T	ENSP00000514526.1:n.*811C>T
ENST00000699696.1:n.1830C>T
ENST00000699697.1:c.*409C>T	ENSP00000514527.1:n.*409C>T
ENST00000699698.1:n.1467C>T
ENST00000699699.1:n.1958C>T
ENST00000699700.1:n.2081C>T
ENST00000699701.1:c.*1014C>T	ENSP00000514528.1:n.*1014C>T
XM_005267528.2:c.1221+218C>T	XP_005267585.1:n.1221+218C>T
XM_005267529.2:c.1202C>T	XP_005267586.1:p.Ala401Val
XM_011536642.2:c.*1014C>T	XP_011534944.1:n.*1014C>T
XM_017021216.2:c.665C>T	XP_016876705.1:p.Ala222Val
XM_017021217.1:c.665C>T	XP_016876706.1:p.Ala222Val