Canonical Allele Identifier: CA430241766

Linked Data

MyVariant Identifiers: chr2:g.179409064T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544337T>A , CM000664.2:g.178544337T>A GRCh38
NC_000002.11:g.179409064T>A , CM000664.1:g.179409064T>A GRCh37
NC_000002.10:g.179117310T>A NCBI36
NG_011618.3:g.291466A>T , LRG_391:g.291466A>T
NG_051363.1:g.26511T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88188A>T (TTN) ENSP00000343764.6:p.Thr29396=
ENST00000342175.11:c.69273A>T (TTN) ENSP00000340554.6:p.Thr23091=
ENST00000359218.10:c.69072A>T (TTN) ENSP00000352154.5:p.Thr23024=
ENST00000342175.10:c.69273A>T (TTN) ENSP00000340554.6:p.Thr23091=
ENST00000342992.10:c.88188A>T (TTN) ENSP00000343764.6:p.Thr29396=
ENST00000359218.9:c.69072A>T (TTN) ENSP00000352154.5:p.Thr23024=
ENST00000460472.6:c.68697A>T (TTN) ENSP00000434586.1:p.Thr22899=
ENST00000589042.5:c.95892A>T (TTN) MANE Select ENSP00000467141.1:p.Thr31964=
ENST00000591111.5:c.90969A>T (TTN) ENSP00000465570.1:p.Thr30323=
ENST00000615779.4:c.90969A>T (TTN) ENSP00000483597.1:p.Thr30323=
NM_001256850.1:c.90969A>T (TTN) NP_001243779.1:p.Thr30323=
NM_001267550.2:c.95892A>T (TTN) MANE Select NP_001254479.2:p.Thr31964=
NM_003319.4:c.68697A>T (TTN) NP_003310.4:p.Thr22899=
NM_133378.4:c.88188A>T (TTN) NP_596869.4:p.Thr29396=
NM_133432.3:c.69072A>T (TTN) NP_597676.3:p.Thr23024=
NM_133437.4:c.69273A>T (TTN) NP_597681.4:p.Thr23091=
NR_038271.1:n.446+20701T>A (TTN-AS1)
NR_038272.1:n.2043+1976T>A (TTN-AS1)
XM_011511729.1:c.94989A>T (TTN) XP_011510031.1:p.Thr31663=
XM_011511730.1:c.68883A>T (TTN) XP_011510032.1:p.Thr22961=
XM_011511731.1:c.68742A>T (TTN) XP_011510033.1:p.Thr22914=
XM_017004819.1:c.94785A>T (TTN) XP_016860308.1:p.Thr31595=
XM_017004820.1:c.90183A>T (TTN) XP_016860309.1:p.Thr30061=
XM_017004821.1:c.90180A>T (TTN) XP_016860310.1:p.Thr30060=
XM_017004822.1:c.87222A>T (TTN) XP_016860311.1:p.Thr29074=
XM_017004823.1:c.68838A>T (TTN) XP_016860312.1:p.Thr22946=
XM_024453094.1:c.90333A>T (TTN) XP_024308862.1:p.Thr30111=
XM_024453095.1:c.90330A>T (TTN) XP_024308863.1:p.Thr30110=
XM_024453096.1:c.89763A>T (TTN) XP_024308864.1:p.Thr29921=
XM_024453097.1:c.87105A>T (TTN) XP_024308865.1:p.Thr29035=
XM_024453098.1:c.87024A>T (TTN) XP_024308866.1:p.Thr29008=
XM_024453099.1:c.68787A>T (TTN) XP_024308867.1:p.Thr22929=
XM_024453100.1:c.58641A>T (TTN) XP_024308868.1:p.Thr19547=