Canonical Allele Identifier: CA430266484

Linked Data

MyVariant Identifiers: chr2:g.179455837T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591110T>A , CM000664.2:g.178591110T>A GRCh38
NC_000002.11:g.179455837T>A , CM000664.1:g.179455837T>A GRCh37
NC_000002.10:g.179164083T>A NCBI36
NG_011618.3:g.244693A>T , LRG_391:g.244693A>T
NG_051363.1:g.73284T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52911A>T (TTN) ENSP00000343764.6:p.Ile17637=
ENST00000342175.11:c.33996A>T (TTN) ENSP00000340554.6:p.Ile11332=
ENST00000359218.10:c.33795A>T (TTN) ENSP00000352154.5:p.Ile11265=
ENST00000342175.10:c.33996A>T (TTN) ENSP00000340554.6:p.Ile11332=
ENST00000342992.10:c.52911A>T (TTN) ENSP00000343764.6:p.Ile17637=
ENST00000359218.9:c.33795A>T (TTN) ENSP00000352154.5:p.Ile11265=
ENST00000460472.6:c.33420A>T (TTN) ENSP00000434586.1:p.Ile11140=
ENST00000589042.5:c.60615A>T (TTN) MANE Select ENSP00000467141.1:p.Ile20205=
ENST00000591111.5:c.55692A>T (TTN) ENSP00000465570.1:p.Ile18564=
ENST00000615779.4:c.55692A>T (TTN) ENSP00000483597.1:p.Ile18564=
NM_001256850.1:c.55692A>T (TTN) NP_001243779.1:p.Ile18564=
NM_001267550.2:c.60615A>T (TTN) MANE Select NP_001254479.2:p.Ile20205=
NM_003319.4:c.33420A>T (TTN) NP_003310.4:p.Ile11140=
NM_133378.4:c.52911A>T (TTN) NP_596869.4:p.Ile17637=
NM_133432.3:c.33795A>T (TTN) NP_597676.3:p.Ile11265=
NM_133437.4:c.33996A>T (TTN) NP_597681.4:p.Ile11332=
NR_038271.1:n.597-6486T>A (TTN-AS1)
NR_038272.1:n.3189-29T>A (TTN-AS1)
XM_011511729.1:c.59712A>T (TTN) XP_011510031.1:p.Ile19904=
XM_011511730.1:c.33606A>T (TTN) XP_011510032.1:p.Ile11202=
XM_011511731.1:c.33465A>T (TTN) XP_011510033.1:p.Ile11155=
XM_017004819.1:c.59508A>T (TTN) XP_016860308.1:p.Ile19836=
XM_017004820.1:c.54906A>T (TTN) XP_016860309.1:p.Ile18302=
XM_017004821.1:c.54903A>T (TTN) XP_016860310.1:p.Ile18301=
XM_017004822.1:c.51945A>T (TTN) XP_016860311.1:p.Ile17315=
XM_017004823.1:c.33561A>T (TTN) XP_016860312.1:p.Ile11187=
XM_024453094.1:c.55056A>T (TTN) XP_024308862.1:p.Ile18352=
XM_024453095.1:c.55053A>T (TTN) XP_024308863.1:p.Ile18351=
XM_024453096.1:c.54486A>T (TTN) XP_024308864.1:p.Ile18162=
XM_024453097.1:c.51828A>T (TTN) XP_024308865.1:p.Ile17276=
XM_024453098.1:c.51747A>T (TTN) XP_024308866.1:p.Ile17249=
XM_024453099.1:c.33510A>T (TTN) XP_024308867.1:p.Ile11170=
XM_024453100.1:c.23364A>T (TTN) XP_024308868.1:p.Ile7788=