Canonical Allele Identifier: CA430249331

Linked Data

MyVariant Identifiers: chr2:g.179426802T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562075T>A , CM000664.2:g.178562075T>A GRCh38
NC_000002.11:g.179426802T>A , CM000664.1:g.179426802T>A GRCh37
NC_000002.10:g.179135048T>A NCBI36
NG_011618.3:g.273728A>T , LRG_391:g.273728A>T
NG_051363.1:g.44249T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76353A>T (TTN) ENSP00000343764.6:p.Ser25451=
ENST00000342175.11:c.57438A>T (TTN) ENSP00000340554.6:p.Ser19146=
ENST00000359218.10:c.57237A>T (TTN) ENSP00000352154.5:p.Ser19079=
ENST00000342175.10:c.57438A>T (TTN) ENSP00000340554.6:p.Ser19146=
ENST00000342992.10:c.76353A>T (TTN) ENSP00000343764.6:p.Ser25451=
ENST00000359218.9:c.57237A>T (TTN) ENSP00000352154.5:p.Ser19079=
ENST00000460472.6:c.56862A>T (TTN) ENSP00000434586.1:p.Ser18954=
ENST00000589042.5:c.84057A>T (TTN) MANE Select ENSP00000467141.1:p.Ser28019=
ENST00000591111.5:c.79134A>T (TTN) ENSP00000465570.1:p.Ser26378=
ENST00000615779.4:c.79134A>T (TTN) ENSP00000483597.1:p.Ser26378=
NM_001256850.1:c.79134A>T (TTN) NP_001243779.1:p.Ser26378=
NM_001267550.2:c.84057A>T (TTN) MANE Select NP_001254479.2:p.Ser28019=
NM_003319.4:c.56862A>T (TTN) NP_003310.4:p.Ser18954=
NM_133378.4:c.76353A>T (TTN) NP_596869.4:p.Ser25451=
NM_133432.3:c.57237A>T (TTN) NP_597676.3:p.Ser19079=
NM_133437.4:c.57438A>T (TTN) NP_597681.4:p.Ser19146=
NR_038271.1:n.447-9225T>A (TTN-AS1)
NR_038272.1:n.2043+19714T>A (TTN-AS1)
XM_011511729.1:c.83154A>T (TTN) XP_011510031.1:p.Ser27718=
XM_011511730.1:c.57048A>T (TTN) XP_011510032.1:p.Ser19016=
XM_011511731.1:c.56907A>T (TTN) XP_011510033.1:p.Ser18969=
XM_017004819.1:c.82950A>T (TTN) XP_016860308.1:p.Ser27650=
XM_017004820.1:c.78348A>T (TTN) XP_016860309.1:p.Ser26116=
XM_017004821.1:c.78345A>T (TTN) XP_016860310.1:p.Ser26115=
XM_017004822.1:c.75387A>T (TTN) XP_016860311.1:p.Ser25129=
XM_017004823.1:c.57003A>T (TTN) XP_016860312.1:p.Ser19001=
XM_024453094.1:c.78498A>T (TTN) XP_024308862.1:p.Ser26166=
XM_024453095.1:c.78495A>T (TTN) XP_024308863.1:p.Ser26165=
XM_024453096.1:c.77928A>T (TTN) XP_024308864.1:p.Ser25976=
XM_024453097.1:c.75270A>T (TTN) XP_024308865.1:p.Ser25090=
XM_024453098.1:c.75189A>T (TTN) XP_024308866.1:p.Ser25063=
XM_024453099.1:c.56952A>T (TTN) XP_024308867.1:p.Ser18984=
XM_024453100.1:c.46806A>T (TTN) XP_024308868.1:p.Ser15602=