Canonical Allele Identifier: CA430264044

Linked Data

MyVariant Identifiers: chr2:g.179449400T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584673T>A , CM000664.2:g.178584673T>A GRCh38
NC_000002.11:g.179449400T>A , CM000664.1:g.179449400T>A GRCh37
NC_000002.10:g.179157646T>A NCBI36
NG_011618.3:g.251130A>T , LRG_391:g.251130A>T
NG_051363.1:g.66847T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57264A>T (TTN) ENSP00000343764.6:p.Pro19088=
ENST00000342175.11:c.38349A>T (TTN) ENSP00000340554.6:p.Pro12783=
ENST00000359218.10:c.38148A>T (TTN) ENSP00000352154.5:p.Pro12716=
ENST00000342175.10:c.38349A>T (TTN) ENSP00000340554.6:p.Pro12783=
ENST00000342992.10:c.57264A>T (TTN) ENSP00000343764.6:p.Pro19088=
ENST00000359218.9:c.38148A>T (TTN) ENSP00000352154.5:p.Pro12716=
ENST00000460472.6:c.37773A>T (TTN) ENSP00000434586.1:p.Pro12591=
ENST00000589042.5:c.64968A>T (TTN) MANE Select ENSP00000467141.1:p.Pro21656=
ENST00000591111.5:c.60045A>T (TTN) ENSP00000465570.1:p.Pro20015=
ENST00000615779.4:c.60045A>T (TTN) ENSP00000483597.1:p.Pro20015=
NM_001256850.1:c.60045A>T (TTN) NP_001243779.1:p.Pro20015=
NM_001267550.2:c.64968A>T (TTN) MANE Select NP_001254479.2:p.Pro21656=
NM_003319.4:c.37773A>T (TTN) NP_003310.4:p.Pro12591=
NM_133378.4:c.57264A>T (TTN) NP_596869.4:p.Pro19088=
NM_133432.3:c.38148A>T (TTN) NP_597676.3:p.Pro12716=
NM_133437.4:c.38349A>T (TTN) NP_597681.4:p.Pro12783=
NR_038271.1:n.597-12923T>A (TTN-AS1)
NR_038272.1:n.2868T>A (TTN-AS1)
XM_011511729.1:c.64065A>T (TTN) XP_011510031.1:p.Pro21355=
XM_011511730.1:c.37959A>T (TTN) XP_011510032.1:p.Pro12653=
XM_011511731.1:c.37818A>T (TTN) XP_011510033.1:p.Pro12606=
XM_017004819.1:c.63861A>T (TTN) XP_016860308.1:p.Pro21287=
XM_017004820.1:c.59259A>T (TTN) XP_016860309.1:p.Pro19753=
XM_017004821.1:c.59256A>T (TTN) XP_016860310.1:p.Pro19752=
XM_017004822.1:c.56298A>T (TTN) XP_016860311.1:p.Pro18766=
XM_017004823.1:c.37914A>T (TTN) XP_016860312.1:p.Pro12638=
XM_024453094.1:c.59409A>T (TTN) XP_024308862.1:p.Pro19803=
XM_024453095.1:c.59406A>T (TTN) XP_024308863.1:p.Pro19802=
XM_024453096.1:c.58839A>T (TTN) XP_024308864.1:p.Pro19613=
XM_024453097.1:c.56181A>T (TTN) XP_024308865.1:p.Pro18727=
XM_024453098.1:c.56100A>T (TTN) XP_024308866.1:p.Pro18700=
XM_024453099.1:c.37863A>T (TTN) XP_024308867.1:p.Pro12621=
XM_024453100.1:c.27717A>T (TTN) XP_024308868.1:p.Pro9239=