Canonical Allele Identifier: CA430263479

Linked Data

MyVariant Identifiers: chr2:g.179449304A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584577A>T , CM000664.2:g.178584577A>T GRCh38
NC_000002.11:g.179449304A>T , CM000664.1:g.179449304A>T GRCh37
NC_000002.10:g.179157550A>T NCBI36
NG_011618.3:g.251226T>A , LRG_391:g.251226T>A
NG_051363.1:g.66751A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57270T>A (TTN) ENSP00000343764.6:p.Gly19090=
ENST00000342175.11:c.38355T>A (TTN) ENSP00000340554.6:p.Gly12785=
ENST00000359218.10:c.38154T>A (TTN) ENSP00000352154.5:p.Gly12718=
ENST00000342175.10:c.38355T>A (TTN) ENSP00000340554.6:p.Gly12785=
ENST00000342992.10:c.57270T>A (TTN) ENSP00000343764.6:p.Gly19090=
ENST00000359218.9:c.38154T>A (TTN) ENSP00000352154.5:p.Gly12718=
ENST00000460472.6:c.37779T>A (TTN) ENSP00000434586.1:p.Gly12593=
ENST00000589042.5:c.64974T>A (TTN) MANE Select ENSP00000467141.1:p.Gly21658=
ENST00000591111.5:c.60051T>A (TTN) ENSP00000465570.1:p.Gly20017=
ENST00000615779.4:c.60051T>A (TTN) ENSP00000483597.1:p.Gly20017=
NM_001256850.1:c.60051T>A (TTN) NP_001243779.1:p.Gly20017=
NM_001267550.2:c.64974T>A (TTN) MANE Select NP_001254479.2:p.Gly21658=
NM_003319.4:c.37779T>A (TTN) NP_003310.4:p.Gly12593=
NM_133378.4:c.57270T>A (TTN) NP_596869.4:p.Gly19090=
NM_133432.3:c.38154T>A (TTN) NP_597676.3:p.Gly12718=
NM_133437.4:c.38355T>A (TTN) NP_597681.4:p.Gly12785=
NR_038271.1:n.597-13019A>T (TTN-AS1)
NR_038272.1:n.2772A>T (TTN-AS1)
XM_011511729.1:c.64071T>A (TTN) XP_011510031.1:p.Gly21357=
XM_011511730.1:c.37965T>A (TTN) XP_011510032.1:p.Gly12655=
XM_011511731.1:c.37824T>A (TTN) XP_011510033.1:p.Gly12608=
XM_017004819.1:c.63867T>A (TTN) XP_016860308.1:p.Gly21289=
XM_017004820.1:c.59265T>A (TTN) XP_016860309.1:p.Gly19755=
XM_017004821.1:c.59262T>A (TTN) XP_016860310.1:p.Gly19754=
XM_017004822.1:c.56304T>A (TTN) XP_016860311.1:p.Gly18768=
XM_017004823.1:c.37920T>A (TTN) XP_016860312.1:p.Gly12640=
XM_024453094.1:c.59415T>A (TTN) XP_024308862.1:p.Gly19805=
XM_024453095.1:c.59412T>A (TTN) XP_024308863.1:p.Gly19804=
XM_024453096.1:c.58845T>A (TTN) XP_024308864.1:p.Gly19615=
XM_024453097.1:c.56187T>A (TTN) XP_024308865.1:p.Gly18729=
XM_024453098.1:c.56106T>A (TTN) XP_024308866.1:p.Gly18702=
XM_024453099.1:c.37869T>A (TTN) XP_024308867.1:p.Gly12623=
XM_024453100.1:c.27723T>A (TTN) XP_024308868.1:p.Gly9241=