Canonical Allele Identifier: CA430244854

Linked Data

MyVariant Identifiers: chr2:g.179414559G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549832G>A , CM000664.2:g.178549832G>A GRCh38
NC_000002.11:g.179414559G>A , CM000664.1:g.179414559G>A GRCh37
NC_000002.10:g.179122805G>A NCBI36
NG_011618.3:g.285971C>T , LRG_391:g.285971C>T
NG_051363.1:g.32006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84186C>T (TTN) ENSP00000343764.6:p.Thr28062=
ENST00000342175.11:c.65271C>T (TTN) ENSP00000340554.6:p.Thr21757=
ENST00000359218.10:c.65070C>T (TTN) ENSP00000352154.5:p.Thr21690=
ENST00000342175.10:c.65271C>T (TTN) ENSP00000340554.6:p.Thr21757=
ENST00000342992.10:c.84186C>T (TTN) ENSP00000343764.6:p.Thr28062=
ENST00000359218.9:c.65070C>T (TTN) ENSP00000352154.5:p.Thr21690=
ENST00000460472.6:c.64695C>T (TTN) ENSP00000434586.1:p.Thr21565=
ENST00000589042.5:c.91890C>T (TTN) MANE Select ENSP00000467141.1:p.Thr30630=
ENST00000591111.5:c.86967C>T (TTN) ENSP00000465570.1:p.Thr28989=
ENST00000615779.4:c.86967C>T (TTN) ENSP00000483597.1:p.Thr28989=
NM_001256850.1:c.86967C>T (TTN) NP_001243779.1:p.Thr28989=
NM_001267550.2:c.91890C>T (TTN) MANE Select NP_001254479.2:p.Thr30630=
NM_003319.4:c.64695C>T (TTN) NP_003310.4:p.Thr21565=
NM_133378.4:c.84186C>T (TTN) NP_596869.4:p.Thr28062=
NM_133432.3:c.65070C>T (TTN) NP_597676.3:p.Thr21690=
NM_133437.4:c.65271C>T (TTN) NP_597681.4:p.Thr21757=
NR_038271.1:n.447-21468G>A (TTN-AS1)
NR_038272.1:n.2043+7471G>A (TTN-AS1)
XM_011511729.1:c.90987C>T (TTN) XP_011510031.1:p.Thr30329=
XM_011511730.1:c.64881C>T (TTN) XP_011510032.1:p.Thr21627=
XM_011511731.1:c.64740C>T (TTN) XP_011510033.1:p.Thr21580=
XM_017004819.1:c.90783C>T (TTN) XP_016860308.1:p.Thr30261=
XM_017004820.1:c.86181C>T (TTN) XP_016860309.1:p.Thr28727=
XM_017004821.1:c.86178C>T (TTN) XP_016860310.1:p.Thr28726=
XM_017004822.1:c.83220C>T (TTN) XP_016860311.1:p.Thr27740=
XM_017004823.1:c.64836C>T (TTN) XP_016860312.1:p.Thr21612=
XM_024453094.1:c.86331C>T (TTN) XP_024308862.1:p.Thr28777=
XM_024453095.1:c.86328C>T (TTN) XP_024308863.1:p.Thr28776=
XM_024453096.1:c.85761C>T (TTN) XP_024308864.1:p.Thr28587=
XM_024453097.1:c.83103C>T (TTN) XP_024308865.1:p.Thr27701=
XM_024453098.1:c.83022C>T (TTN) XP_024308866.1:p.Thr27674=
XM_024453099.1:c.64785C>T (TTN) XP_024308867.1:p.Thr21595=
XM_024453100.1:c.54639C>T (TTN) XP_024308868.1:p.Thr18213=