Canonical Allele Identifier: CA430241610

Linked Data

MyVariant Identifiers: chr2:g.179408631A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543904A>T , CM000664.2:g.178543904A>T GRCh38
NC_000002.11:g.179408631A>T , CM000664.1:g.179408631A>T GRCh37
NC_000002.10:g.179116877A>T NCBI36
NG_011618.3:g.291899T>A , LRG_391:g.291899T>A
NG_051363.1:g.26078A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88536T>A (TTN) ENSP00000343764.6:p.Ala29512=
ENST00000342175.11:c.69621T>A (TTN) ENSP00000340554.6:p.Ala23207=
ENST00000359218.10:c.69420T>A (TTN) ENSP00000352154.5:p.Ala23140=
ENST00000342175.10:c.69621T>A (TTN) ENSP00000340554.6:p.Ala23207=
ENST00000342992.10:c.88536T>A (TTN) ENSP00000343764.6:p.Ala29512=
ENST00000359218.9:c.69420T>A (TTN) ENSP00000352154.5:p.Ala23140=
ENST00000460472.6:c.69045T>A (TTN) ENSP00000434586.1:p.Ala23015=
ENST00000589042.5:c.96240T>A (TTN) MANE Select ENSP00000467141.1:p.Ala32080=
ENST00000591111.5:c.91317T>A (TTN) ENSP00000465570.1:p.Ala30439=
ENST00000615779.4:c.91317T>A (TTN) ENSP00000483597.1:p.Ala30439=
NM_001256850.1:c.91317T>A (TTN) NP_001243779.1:p.Ala30439=
NM_001267550.2:c.96240T>A (TTN) MANE Select NP_001254479.2:p.Ala32080=
NM_003319.4:c.69045T>A (TTN) NP_003310.4:p.Ala23015=
NM_133378.4:c.88536T>A (TTN) NP_596869.4:p.Ala29512=
NM_133432.3:c.69420T>A (TTN) NP_597676.3:p.Ala23140=
NM_133437.4:c.69621T>A (TTN) NP_597681.4:p.Ala23207=
NR_038271.1:n.446+20268A>T (TTN-AS1)
NR_038272.1:n.2043+1543A>T (TTN-AS1)
XM_011511729.1:c.95337T>A (TTN) XP_011510031.1:p.Ala31779=
XM_011511730.1:c.69231T>A (TTN) XP_011510032.1:p.Ala23077=
XM_011511731.1:c.69090T>A (TTN) XP_011510033.1:p.Ala23030=
XM_017004819.1:c.95133T>A (TTN) XP_016860308.1:p.Ala31711=
XM_017004820.1:c.90531T>A (TTN) XP_016860309.1:p.Ala30177=
XM_017004821.1:c.90528T>A (TTN) XP_016860310.1:p.Ala30176=
XM_017004822.1:c.87570T>A (TTN) XP_016860311.1:p.Ala29190=
XM_017004823.1:c.69186T>A (TTN) XP_016860312.1:p.Ala23062=
XM_024453094.1:c.90681T>A (TTN) XP_024308862.1:p.Ala30227=
XM_024453095.1:c.90678T>A (TTN) XP_024308863.1:p.Ala30226=
XM_024453096.1:c.90111T>A (TTN) XP_024308864.1:p.Ala30037=
XM_024453097.1:c.87453T>A (TTN) XP_024308865.1:p.Ala29151=
XM_024453098.1:c.87372T>A (TTN) XP_024308866.1:p.Ala29124=
XM_024453099.1:c.69135T>A (TTN) XP_024308867.1:p.Ala23045=
XM_024453100.1:c.58989T>A (TTN) XP_024308868.1:p.Ala19663=