Canonical Allele Identifier: CA430241543

Linked Data

MyVariant Identifiers: chr2:g.179408820T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544093T>A , CM000664.2:g.178544093T>A GRCh38
NC_000002.11:g.179408820T>A , CM000664.1:g.179408820T>A GRCh37
NC_000002.10:g.179117066T>A NCBI36
NG_011618.3:g.291710A>T , LRG_391:g.291710A>T
NG_051363.1:g.26267T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88347A>T (TTN) ENSP00000343764.6:p.Ala29449=
ENST00000342175.11:c.69432A>T (TTN) ENSP00000340554.6:p.Ala23144=
ENST00000359218.10:c.69231A>T (TTN) ENSP00000352154.5:p.Ala23077=
ENST00000342175.10:c.69432A>T (TTN) ENSP00000340554.6:p.Ala23144=
ENST00000342992.10:c.88347A>T (TTN) ENSP00000343764.6:p.Ala29449=
ENST00000359218.9:c.69231A>T (TTN) ENSP00000352154.5:p.Ala23077=
ENST00000460472.6:c.68856A>T (TTN) ENSP00000434586.1:p.Ala22952=
ENST00000589042.5:c.96051A>T (TTN) MANE Select ENSP00000467141.1:p.Ala32017=
ENST00000591111.5:c.91128A>T (TTN) ENSP00000465570.1:p.Ala30376=
ENST00000615779.4:c.91128A>T (TTN) ENSP00000483597.1:p.Ala30376=
NM_001256850.1:c.91128A>T (TTN) NP_001243779.1:p.Ala30376=
NM_001267550.2:c.96051A>T (TTN) MANE Select NP_001254479.2:p.Ala32017=
NM_003319.4:c.68856A>T (TTN) NP_003310.4:p.Ala22952=
NM_133378.4:c.88347A>T (TTN) NP_596869.4:p.Ala29449=
NM_133432.3:c.69231A>T (TTN) NP_597676.3:p.Ala23077=
NM_133437.4:c.69432A>T (TTN) NP_597681.4:p.Ala23144=
NR_038271.1:n.446+20457T>A (TTN-AS1)
NR_038272.1:n.2043+1732T>A (TTN-AS1)
XM_011511729.1:c.95148A>T (TTN) XP_011510031.1:p.Ala31716=
XM_011511730.1:c.69042A>T (TTN) XP_011510032.1:p.Ala23014=
XM_011511731.1:c.68901A>T (TTN) XP_011510033.1:p.Ala22967=
XM_017004819.1:c.94944A>T (TTN) XP_016860308.1:p.Ala31648=
XM_017004820.1:c.90342A>T (TTN) XP_016860309.1:p.Ala30114=
XM_017004821.1:c.90339A>T (TTN) XP_016860310.1:p.Ala30113=
XM_017004822.1:c.87381A>T (TTN) XP_016860311.1:p.Ala29127=
XM_017004823.1:c.68997A>T (TTN) XP_016860312.1:p.Ala22999=
XM_024453094.1:c.90492A>T (TTN) XP_024308862.1:p.Ala30164=
XM_024453095.1:c.90489A>T (TTN) XP_024308863.1:p.Ala30163=
XM_024453096.1:c.89922A>T (TTN) XP_024308864.1:p.Ala29974=
XM_024453097.1:c.87264A>T (TTN) XP_024308865.1:p.Ala29088=
XM_024453098.1:c.87183A>T (TTN) XP_024308866.1:p.Ala29061=
XM_024453099.1:c.68946A>T (TTN) XP_024308867.1:p.Ala22982=
XM_024453100.1:c.58800A>T (TTN) XP_024308868.1:p.Ala19600=