Canonical Allele Identifier: CA7130751

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24242205G>T , CM000676.2:g.24242205G>T	GRCh38
NC_000014.8:g.24711411G>T , CM000676.1:g.24711411G>T	GRCh37
NC_000014.7:g.23781251G>T	NCBI36
NG_016650.1:g.5470C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.128C>A MANE Select	NP_001092744.1:p.Ala43Asp
ENST00000267415.12:c.128C>A MANE Select	ENSP00000267415.7:p.Ala43Asp
NM_001099274.1:c.128C>A	NP_001092744.1:p.Ala43Asp
NM_001099274.2:c.128C>A	NP_001092744.1:p.Ala43Asp
NM_001363668.1:c.128C>A	NP_001350597.1:p.Ala43Asp
NM_001363668.2:c.128C>A	NP_001350597.1:p.Ala43Asp
NM_012461.2:c.128C>A	NP_036593.2:p.Ala43Asp
NM_012461.3:c.128C>A	NP_036593.2:p.Ala43Asp
ENST00000267415.11:c.128C>A	ENSP00000267415.7:p.Ala43Asp
ENST00000399423.8:c.128C>A	ENSP00000382350.4:p.Ala43Asp
ENST00000557915.2:n.431C>A
ENST00000557921.1:c.128C>A	ENSP00000453157.1:p.Ala43Asp
ENST00000557921.2:c.128C>A	ENSP00000453157.2:p.Ala43Asp
ENST00000557921.3:c.128C>A	ENSP00000453157.3:p.Ala43Asp
ENST00000558476.5:c.-247+172C>A	ENSP00000452724.1:n.-247+172C>A
ENST00000558510.1:n.431C>A
ENST00000558566.1:c.128C>A	ENSP00000453025.1:p.Ala43Asp
ENST00000559019.1:c.128C>A	ENSP00000453675.1:p.Ala43Asp
ENST00000559147.1:n.138C>A
ENST00000559969.5:c.84C>A
ENST00000626689.2:c.128C>A	ENSP00000486681.1:p.Ala43Asp
ENST00000646753.1:c.128C>A	ENSP00000494065.1:p.Ala43Asp
ENST00000699682.1:n.431C>A
ENST00000699683.1:n.422C>A
ENST00000699684.1:c.128C>A	ENSP00000514523.1:p.Ala43Asp
ENST00000699685.1:n.391C>A
ENST00000699686.1:c.128C>A	ENSP00000514524.1:p.Ala43Asp
ENST00000699687.1:c.128C>A	ENSP00000514525.1:p.Ala43Asp
ENST00000699688.1:n.290C>A
ENST00000699689.1:n.425C>A
ENST00000699690.1:n.431C>A
ENST00000699691.1:n.431C>A
ENST00000699693.1:n.142C>A
ENST00000699694.1:n.384C>A
ENST00000699695.1:c.128C>A	ENSP00000514526.1:p.Ala43Asp
ENST00000699696.1:n.431C>A
ENST00000699697.1:c.128C>A	ENSP00000514527.1:p.Ala43Asp
ENST00000699698.1:n.154C>A
ENST00000699700.1:n.431C>A
ENST00000699701.1:c.128C>A	ENSP00000514528.1:p.Ala43Asp
XM_005267528.2:c.128C>A	XP_005267585.1:p.Ala43Asp
XM_005267529.2:c.128C>A	XP_005267586.1:p.Ala43Asp
XM_011536642.1:c.128C>A	XP_011534944.1:p.Ala43Asp
XM_011536642.2:c.128C>A	XP_011534944.1:p.Ala43Asp
XM_017021216.2:c.-103C>A	XP_016876705.1:n.-103C>A