Canonical Allele Identifier: CA430245413

Linked Data

MyVariant Identifiers: chr2:g.179416583T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551856T>G , CM000664.2:g.178551856T>G GRCh38
NC_000002.11:g.179416583T>G , CM000664.1:g.179416583T>G GRCh37
NC_000002.10:g.179124829T>G NCBI36
NG_011618.3:g.283947A>C , LRG_391:g.283947A>C
NG_051363.1:g.34030T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83340A>C (TTN) ENSP00000343764.6:p.Pro27780=
ENST00000342175.11:c.64425A>C (TTN) ENSP00000340554.6:p.Pro21475=
ENST00000359218.10:c.64224A>C (TTN) ENSP00000352154.5:p.Pro21408=
ENST00000342175.10:c.64425A>C (TTN) ENSP00000340554.6:p.Pro21475=
ENST00000342992.10:c.83340A>C (TTN) ENSP00000343764.6:p.Pro27780=
ENST00000359218.9:c.64224A>C (TTN) ENSP00000352154.5:p.Pro21408=
ENST00000460472.6:c.63849A>C (TTN) ENSP00000434586.1:p.Pro21283=
ENST00000589042.5:c.91044A>C (TTN) MANE Select ENSP00000467141.1:p.Pro30348=
ENST00000591111.5:c.86121A>C (TTN) ENSP00000465570.1:p.Pro28707=
ENST00000615779.4:c.86121A>C (TTN) ENSP00000483597.1:p.Pro28707=
NM_001256850.1:c.86121A>C (TTN) NP_001243779.1:p.Pro28707=
NM_001267550.2:c.91044A>C (TTN) MANE Select NP_001254479.2:p.Pro30348=
NM_003319.4:c.63849A>C (TTN) NP_003310.4:p.Pro21283=
NM_133378.4:c.83340A>C (TTN) NP_596869.4:p.Pro27780=
NM_133432.3:c.64224A>C (TTN) NP_597676.3:p.Pro21408=
NM_133437.4:c.64425A>C (TTN) NP_597681.4:p.Pro21475=
NR_038271.1:n.447-19444T>G (TTN-AS1)
NR_038272.1:n.2043+9495T>G (TTN-AS1)
XM_011511729.1:c.90141A>C (TTN) XP_011510031.1:p.Pro30047=
XM_011511730.1:c.64035A>C (TTN) XP_011510032.1:p.Pro21345=
XM_011511731.1:c.63894A>C (TTN) XP_011510033.1:p.Pro21298=
XM_017004819.1:c.89937A>C (TTN) XP_016860308.1:p.Pro29979=
XM_017004820.1:c.85335A>C (TTN) XP_016860309.1:p.Pro28445=
XM_017004821.1:c.85332A>C (TTN) XP_016860310.1:p.Pro28444=
XM_017004822.1:c.82374A>C (TTN) XP_016860311.1:p.Pro27458=
XM_017004823.1:c.63990A>C (TTN) XP_016860312.1:p.Pro21330=
XM_024453094.1:c.85485A>C (TTN) XP_024308862.1:p.Pro28495=
XM_024453095.1:c.85482A>C (TTN) XP_024308863.1:p.Pro28494=
XM_024453096.1:c.84915A>C (TTN) XP_024308864.1:p.Pro28305=
XM_024453097.1:c.82257A>C (TTN) XP_024308865.1:p.Pro27419=
XM_024453098.1:c.82176A>C (TTN) XP_024308866.1:p.Pro27392=
XM_024453099.1:c.63939A>C (TTN) XP_024308867.1:p.Pro21313=
XM_024453100.1:c.53793A>C (TTN) XP_024308868.1:p.Pro17931=