Canonical Allele Identifier: CA2123849303
Community Standard Title: NM_001099274.3(TINF2):c.844C= (p.Arg282=)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240636G= , CM000676.2:g.24240636G= GRCh38
NC_000014.8:g.24709842G= , CM000676.1:g.24709842G= GRCh37
NC_000014.7:g.23779682G= NCBI36
NG_016650.1:g.7039C=
NG_054634.1:g.13220G=

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.844C= MANE Select NP_001092744.1:p.Arg282=
ENST00000267415.12:c.844C= MANE Select ENSP00000267415.7:p.Arg282=
NM_001099274.1:c.844C= NP_001092744.1:p.Arg282=
NM_001099274.2:c.844C= NP_001092744.1:p.Arg282=
NM_001363668.1:c.739C= NP_001350597.1:p.Arg247=
NM_001363668.2:c.739C= NP_001350597.1:p.Arg247=
NM_012461.2:c.844C= NP_036593.2:p.Arg282=
NM_012461.3:c.844C= NP_036593.2:p.Arg282=
ENST00000267415.11:c.844C= ENSP00000267415.7:p.Arg282=
ENST00000399423.8:c.844C= ENSP00000382350.4:p.Arg282=
ENST00000557915.2:n.1147C=
ENST00000557921.2:c.736C= ENSP00000453157.2:p.Arg246=
ENST00000557921.3:c.736C= ENSP00000453157.3:p.Arg246=
ENST00000558476.5:c.406C= ENSP00000452724.1:p.Arg136=
ENST00000558566.1:c.*216C= ENSP00000453025.1:n.*216C=
ENST00000559019.1:c.*216C= ENSP00000453675.1:n.*216C=
ENST00000559549.1:n.570C=
ENST00000559969.5:c.757+43C=
ENST00000626689.2:c.*216C= ENSP00000486681.1:n.*216C=
ENST00000646753.1:c.739C= ENSP00000494065.1:p.Arg247=
ENST00000699682.1:n.1234C=
ENST00000699683.1:n.1284C=
ENST00000699684.1:c.*437C= ENSP00000514523.1:n.*437C=
ENST00000699685.1:n.1048C=
ENST00000699686.1:c.637C= ENSP00000514524.1:p.Arg213=
ENST00000699687.1:c.739C= ENSP00000514525.1:p.Arg247=
ENST00000699688.1:n.1044C=
ENST00000699689.1:n.1400C=
ENST00000699690.1:n.1597C=
ENST00000699691.1:n.1741C=
ENST00000699693.1:n.1261C=
ENST00000699694.1:n.1503C=
ENST00000699695.1:c.*216C= ENSP00000514526.1:n.*216C=
ENST00000699696.1:n.1147C=
ENST00000699697.1:c.844C= ENSP00000514527.1:p.Arg282=
ENST00000699698.1:n.765C=
ENST00000699699.1:n.1168C=
ENST00000699700.1:n.1291C=
ENST00000699701.1:c.*224C= ENSP00000514528.1:n.*224C=
XM_005267528.2:c.844C= XP_005267585.1:p.Arg282=
XM_005267529.2:c.739C= XP_005267586.1:p.Arg247=
XM_011536642.2:c.*224C= XP_011534944.1:n.*224C=
XM_017021216.2:c.202C= XP_016876705.1:p.Arg68=
XM_017021217.1:c.202C= XP_016876706.1:p.Arg68=