Canonical Allele Identifier: CA430241849

Linked Data

MyVariant Identifiers: chr2:g.179409100G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544373G>A , CM000664.2:g.178544373G>A GRCh38
NC_000002.11:g.179409100G>A , CM000664.1:g.179409100G>A GRCh37
NC_000002.10:g.179117346G>A NCBI36
NG_011618.3:g.291430C>T , LRG_391:g.291430C>T
NG_051363.1:g.26547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88152C>T (TTN) ENSP00000343764.6:p.Asp29384=
ENST00000342175.11:c.69237C>T (TTN) ENSP00000340554.6:p.Asp23079=
ENST00000359218.10:c.69036C>T (TTN) ENSP00000352154.5:p.Asp23012=
ENST00000342175.10:c.69237C>T (TTN) ENSP00000340554.6:p.Asp23079=
ENST00000342992.10:c.88152C>T (TTN) ENSP00000343764.6:p.Asp29384=
ENST00000359218.9:c.69036C>T (TTN) ENSP00000352154.5:p.Asp23012=
ENST00000460472.6:c.68661C>T (TTN) ENSP00000434586.1:p.Asp22887=
ENST00000589042.5:c.95856C>T (TTN) MANE Select ENSP00000467141.1:p.Asp31952=
ENST00000591111.5:c.90933C>T (TTN) ENSP00000465570.1:p.Asp30311=
ENST00000615779.4:c.90933C>T (TTN) ENSP00000483597.1:p.Asp30311=
NM_001256850.1:c.90933C>T (TTN) NP_001243779.1:p.Asp30311=
NM_001267550.2:c.95856C>T (TTN) MANE Select NP_001254479.2:p.Asp31952=
NM_003319.4:c.68661C>T (TTN) NP_003310.4:p.Asp22887=
NM_133378.4:c.88152C>T (TTN) NP_596869.4:p.Asp29384=
NM_133432.3:c.69036C>T (TTN) NP_597676.3:p.Asp23012=
NM_133437.4:c.69237C>T (TTN) NP_597681.4:p.Asp23079=
NR_038271.1:n.446+20737G>A (TTN-AS1)
NR_038272.1:n.2043+2012G>A (TTN-AS1)
XM_011511729.1:c.94953C>T (TTN) XP_011510031.1:p.Asp31651=
XM_011511730.1:c.68847C>T (TTN) XP_011510032.1:p.Asp22949=
XM_011511731.1:c.68706C>T (TTN) XP_011510033.1:p.Asp22902=
XM_017004819.1:c.94749C>T (TTN) XP_016860308.1:p.Asp31583=
XM_017004820.1:c.90147C>T (TTN) XP_016860309.1:p.Asp30049=
XM_017004821.1:c.90144C>T (TTN) XP_016860310.1:p.Asp30048=
XM_017004822.1:c.87186C>T (TTN) XP_016860311.1:p.Asp29062=
XM_017004823.1:c.68802C>T (TTN) XP_016860312.1:p.Asp22934=
XM_024453094.1:c.90297C>T (TTN) XP_024308862.1:p.Asp30099=
XM_024453095.1:c.90294C>T (TTN) XP_024308863.1:p.Asp30098=
XM_024453096.1:c.89727C>T (TTN) XP_024308864.1:p.Asp29909=
XM_024453097.1:c.87069C>T (TTN) XP_024308865.1:p.Asp29023=
XM_024453098.1:c.86988C>T (TTN) XP_024308866.1:p.Asp28996=
XM_024453099.1:c.68751C>T (TTN) XP_024308867.1:p.Asp22917=
XM_024453100.1:c.58605C>T (TTN) XP_024308868.1:p.Asp19535=