Canonical Allele Identifier: CA430274601

Linked Data

MyVariant Identifiers: chr2:g.179482929T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618202T>A , CM000664.2:g.178618202T>A GRCh38
NC_000002.11:g.179482929T>A , CM000664.1:g.179482929T>A GRCh37
NC_000002.10:g.179191174T>A NCBI36
NG_011618.3:g.217601A>T , LRG_391:g.217601A>T
NG_051363.1:g.100376T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39552A>T (TTN) ENSP00000343764.6:p.Ala13184=
ENST00000342175.11:c.20637A>T (TTN) ENSP00000340554.6:p.Ala6879=
ENST00000359218.10:c.20436A>T (TTN) ENSP00000352154.5:p.Ala6812=
ENST00000342175.10:c.20637A>T (TTN) ENSP00000340554.6:p.Ala6879=
ENST00000342992.10:c.39552A>T (TTN) ENSP00000343764.6:p.Ala13184=
ENST00000359218.9:c.20436A>T (TTN) ENSP00000352154.5:p.Ala6812=
ENST00000460472.6:c.20061A>T (TTN) ENSP00000434586.1:p.Ala6687=
ENST00000589042.5:c.47256A>T (TTN) MANE Select ENSP00000467141.1:p.Ala15752=
ENST00000591111.5:c.42333A>T (TTN) ENSP00000465570.1:p.Ala14111=
ENST00000615779.4:c.42333A>T (TTN) ENSP00000483597.1:p.Ala14111=
NM_001256850.1:c.42333A>T (TTN) NP_001243779.1:p.Ala14111=
NM_001267550.2:c.47256A>T (TTN) MANE Select NP_001254479.2:p.Ala15752=
NM_003319.4:c.20061A>T (TTN) NP_003310.4:p.Ala6687=
NM_133378.4:c.39552A>T (TTN) NP_596869.4:p.Ala13184=
NM_133432.3:c.20436A>T (TTN) NP_597676.3:p.Ala6812=
NM_133437.4:c.20637A>T (TTN) NP_597681.4:p.Ala6879=
NR_038271.1:n.1605-1551T>A (TTN-AS1)
XM_011511729.1:c.46353A>T (TTN) XP_011510031.1:p.Ala15451=
XM_011511730.1:c.20247A>T (TTN) XP_011510032.1:p.Ala6749=
XM_011511731.1:c.20106A>T (TTN) XP_011510033.1:p.Ala6702=
XM_017004819.1:c.46149A>T (TTN) XP_016860308.1:p.Ala15383=
XM_017004820.1:c.41547A>T (TTN) XP_016860309.1:p.Ala13849=
XM_017004821.1:c.41544A>T (TTN) XP_016860310.1:p.Ala13848=
XM_017004822.1:c.38586A>T (TTN) XP_016860311.1:p.Ala12862=
XM_017004823.1:c.20202A>T (TTN) XP_016860312.1:p.Ala6734=
XM_024453094.1:c.41697A>T (TTN) XP_024308862.1:p.Ala13899=
XM_024453095.1:c.41694A>T (TTN) XP_024308863.1:p.Ala13898=
XM_024453096.1:c.41127A>T (TTN) XP_024308864.1:p.Ala13709=
XM_024453097.1:c.38469A>T (TTN) XP_024308865.1:p.Ala12823=
XM_024453098.1:c.38388A>T (TTN) XP_024308866.1:p.Ala12796=
XM_024453099.1:c.20151A>T (TTN) XP_024308867.1:p.Ala6717=
XM_024453100.1:c.10005A>T (TTN) XP_024308868.1:p.Ala3335=