Canonical Allele Identifier: CA430241678

Linked Data

MyVariant Identifiers: chr2:g.179409037T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544310T>A , CM000664.2:g.178544310T>A GRCh38
NC_000002.11:g.179409037T>A , CM000664.1:g.179409037T>A GRCh37
NC_000002.10:g.179117283T>A NCBI36
NG_011618.3:g.291493A>T , LRG_391:g.291493A>T
NG_051363.1:g.26484T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88215A>T (TTN) ENSP00000343764.6:p.Pro29405=
ENST00000342175.11:c.69300A>T (TTN) ENSP00000340554.6:p.Pro23100=
ENST00000359218.10:c.69099A>T (TTN) ENSP00000352154.5:p.Pro23033=
ENST00000342175.10:c.69300A>T (TTN) ENSP00000340554.6:p.Pro23100=
ENST00000342992.10:c.88215A>T (TTN) ENSP00000343764.6:p.Pro29405=
ENST00000359218.9:c.69099A>T (TTN) ENSP00000352154.5:p.Pro23033=
ENST00000460472.6:c.68724A>T (TTN) ENSP00000434586.1:p.Pro22908=
ENST00000589042.5:c.95919A>T (TTN) MANE Select ENSP00000467141.1:p.Pro31973=
ENST00000591111.5:c.90996A>T (TTN) ENSP00000465570.1:p.Pro30332=
ENST00000615779.4:c.90996A>T (TTN) ENSP00000483597.1:p.Pro30332=
NM_001256850.1:c.90996A>T (TTN) NP_001243779.1:p.Pro30332=
NM_001267550.2:c.95919A>T (TTN) MANE Select NP_001254479.2:p.Pro31973=
NM_003319.4:c.68724A>T (TTN) NP_003310.4:p.Pro22908=
NM_133378.4:c.88215A>T (TTN) NP_596869.4:p.Pro29405=
NM_133432.3:c.69099A>T (TTN) NP_597676.3:p.Pro23033=
NM_133437.4:c.69300A>T (TTN) NP_597681.4:p.Pro23100=
NR_038271.1:n.446+20674T>A (TTN-AS1)
NR_038272.1:n.2043+1949T>A (TTN-AS1)
XM_011511729.1:c.95016A>T (TTN) XP_011510031.1:p.Pro31672=
XM_011511730.1:c.68910A>T (TTN) XP_011510032.1:p.Pro22970=
XM_011511731.1:c.68769A>T (TTN) XP_011510033.1:p.Pro22923=
XM_017004819.1:c.94812A>T (TTN) XP_016860308.1:p.Pro31604=
XM_017004820.1:c.90210A>T (TTN) XP_016860309.1:p.Pro30070=
XM_017004821.1:c.90207A>T (TTN) XP_016860310.1:p.Pro30069=
XM_017004822.1:c.87249A>T (TTN) XP_016860311.1:p.Pro29083=
XM_017004823.1:c.68865A>T (TTN) XP_016860312.1:p.Pro22955=
XM_024453094.1:c.90360A>T (TTN) XP_024308862.1:p.Pro30120=
XM_024453095.1:c.90357A>T (TTN) XP_024308863.1:p.Pro30119=
XM_024453096.1:c.89790A>T (TTN) XP_024308864.1:p.Pro29930=
XM_024453097.1:c.87132A>T (TTN) XP_024308865.1:p.Pro29044=
XM_024453098.1:c.87051A>T (TTN) XP_024308866.1:p.Pro29017=
XM_024453099.1:c.68814A>T (TTN) XP_024308867.1:p.Pro22938=
XM_024453100.1:c.58668A>T (TTN) XP_024308868.1:p.Pro19556=