Canonical Allele Identifier: CA2123849338
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240702G= , CM000676.2:g.24240702G= GRCh38
NC_000014.8:g.24709908G= , CM000676.1:g.24709908G= GRCh37
NC_000014.7:g.23779748G= NCBI36
NG_016650.1:g.6973C=
NG_054634.1:g.13286G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1081C=
ENST00000557921.3:c.670C= ENSP00000453157.3:p.Leu224=
ENST00000699682.1:n.1168C=
ENST00000699683.1:n.1218C=
ENST00000699684.1:c.*371C= ENSP00000514523.1:n.*371C=
ENST00000699685.1:n.982C=
ENST00000699686.1:c.571C= ENSP00000514524.1:p.Leu191=
ENST00000699687.1:c.673C= ENSP00000514525.1:p.Leu225=
ENST00000699688.1:n.978C=
ENST00000699689.1:n.1334C=
ENST00000699690.1:n.1531C=
ENST00000699691.1:n.1675C=
ENST00000699693.1:n.1195C=
ENST00000699694.1:n.1437C=
ENST00000699695.1:c.*150C= ENSP00000514526.1:n.*150C=
ENST00000699696.1:n.1081C=
ENST00000699697.1:c.778C= ENSP00000514527.1:p.Leu260=
ENST00000699698.1:n.699C=
ENST00000699699.1:n.1102C=
ENST00000699700.1:n.1225C=
ENST00000699701.1:c.*158C= ENSP00000514528.1:n.*158C=
ENST00000267415.12:c.778C= MANE Select ENSP00000267415.7:p.Leu260=
ENST00000557921.2:c.670C= ENSP00000453157.2:p.Leu224=
ENST00000646753.1:c.673C= ENSP00000494065.1:p.Leu225=
ENST00000267415.11:c.778C= ENSP00000267415.7:p.Leu260=
ENST00000399423.8:c.778C= ENSP00000382350.4:p.Leu260=
ENST00000558476.5:c.340C= ENSP00000452724.1:p.Leu114=
ENST00000558566.1:c.*150C= ENSP00000453025.1:n.*150C=
ENST00000559019.1:c.*150C= ENSP00000453675.1:n.*150C=
ENST00000559549.1:n.504C=
ENST00000559969.5:c.734C=
ENST00000626689.2:c.*150C= ENSP00000486681.1:n.*150C=
NM_001099274.1:c.778C= NP_001092744.1:p.Leu260=
NM_012461.2:c.778C= NP_036593.2:p.Leu260=
XM_005267528.2:c.778C= XP_005267585.1:p.Leu260=
XM_005267529.2:c.673C= XP_005267586.1:p.Leu225=
NM_001099274.2:c.778C= NP_001092744.1:p.Leu260=
NM_001363668.1:c.673C= NP_001350597.1:p.Leu225=
NM_012461.3:c.778C= NP_036593.2:p.Leu260=
XM_011536642.2:c.*158C= XP_011534944.1:n.*158C=
XM_017021216.2:c.136C= XP_016876705.1:p.Leu46=
XM_017021217.1:c.136C= XP_016876706.1:p.Leu46=
NM_001099274.3:c.778C= MANE Select NP_001092744.1:p.Leu260=
NM_001363668.2:c.673C= NP_001350597.1:p.Leu225=