Canonical Allele Identifier: CA257880794
Community Standard Title: NM_001099274.3(TINF2):c.1155C>T (p.Ser385=)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240130G>A , CM000676.2:g.24240130G>A GRCh38
NC_000014.8:g.24709336G>A , CM000676.1:g.24709336G>A GRCh37
NC_000014.7:g.23779176G>A NCBI36
NG_016650.1:g.7545C>T
NG_054634.1:g.12714G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.1155C>T MANE Select NP_001092744.1:p.Ser385=
ENST00000267415.12:c.1155C>T MANE Select ENSP00000267415.7:p.Ser385=
NM_001099274.1:c.1155C>T NP_001092744.1:p.Ser385=
NM_001099274.2:c.1155C>T NP_001092744.1:p.Ser385=
NM_001363668.1:c.1050C>T NP_001350597.1:p.Ser350=
NM_001363668.2:c.1050C>T NP_001350597.1:p.Ser350=
NM_012461.2:c.*285C>T NP_036593.2:n.*285C>T
NM_012461.3:c.*285C>T NP_036593.2:n.*285C>T
ENST00000267415.11:c.1155C>T ENSP00000267415.7:p.Ser385=
ENST00000399423.8:c.*285C>T ENSP00000382350.4:n.*285C>T
ENST00000557915.1:n.362C>T
ENST00000557915.2:n.1546C>T
ENST00000557921.3:c.*285C>T ENSP00000453157.3:n.*285C>T
ENST00000558566.1:c.*722C>T ENSP00000453025.1:n.*722C>T
ENST00000558703.1:n.113C>T
ENST00000559969.5:c.1108C>T
ENST00000560019.5:c.150C>T ENSP00000453113.1:p.Ser50=
ENST00000626689.2:c.*527C>T ENSP00000486681.1:n.*527C>T
ENST00000646753.1:c.1050C>T ENSP00000494065.1:p.Ser350=
ENST00000699682.1:n.1740C>T
ENST00000699683.1:n.1790C>T
ENST00000699684.1:c.*943C>T ENSP00000514523.1:n.*943C>T
ENST00000699685.1:n.1554C>T
ENST00000699686.1:c.*285C>T ENSP00000514524.1:n.*285C>T
ENST00000699687.1:c.*285C>T ENSP00000514525.1:n.*285C>T
ENST00000699688.1:n.1550C>T
ENST00000699689.1:n.1906C>T
ENST00000699690.1:n.2103C>T
ENST00000699691.1:n.2247C>T
ENST00000699692.1:n.122C>T
ENST00000699693.1:n.1572C>T
ENST00000699694.1:n.2009C>T
ENST00000699695.1:c.*527C>T ENSP00000514526.1:n.*527C>T
ENST00000699696.1:n.1546C>T
ENST00000699697.1:c.*125C>T ENSP00000514527.1:n.*125C>T
ENST00000699698.1:n.1183C>T
ENST00000699699.1:n.1674C>T
ENST00000699700.1:n.1797C>T
ENST00000699701.1:c.*730C>T ENSP00000514528.1:n.*730C>T
XM_005267528.2:c.1155C>T XP_005267585.1:p.Ser385=
XM_005267529.2:c.1050C>T XP_005267586.1:p.Ser350=
XM_011536642.2:c.*730C>T XP_011534944.1:n.*730C>T
XM_017021216.2:c.513C>T XP_016876705.1:p.Ser171=
XM_017021217.1:c.513C>T XP_016876706.1:p.Ser171=