Canonical Allele Identifier: CA430235947

Linked Data

MyVariant Identifiers: chr2:g.179396969G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532242G>A , CM000664.2:g.178532242G>A GRCh38
NC_000002.11:g.179396969G>A , CM000664.1:g.179396969G>A GRCh37
NC_000002.10:g.179105215G>A NCBI36
NG_011618.3:g.303561C>T , LRG_391:g.303561C>T
NG_051363.1:g.14416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96669C>T (TTN) ENSP00000343764.6:p.Asp32223=
ENST00000342175.11:c.77754C>T (TTN) ENSP00000340554.6:p.Asp25918=
ENST00000359218.10:c.77553C>T (TTN) ENSP00000352154.5:p.Asp25851=
ENST00000342175.10:c.77754C>T (TTN) ENSP00000340554.6:p.Asp25918=
ENST00000342992.10:c.96669C>T (TTN) ENSP00000343764.6:p.Asp32223=
ENST00000359218.9:c.77553C>T (TTN) ENSP00000352154.5:p.Asp25851=
ENST00000460472.6:c.77178C>T (TTN) ENSP00000434586.1:p.Asp25726=
ENST00000589042.5:c.104373C>T (TTN) MANE Select ENSP00000467141.1:p.Asp34791=
ENST00000591111.5:c.99450C>T (TTN) ENSP00000465570.1:p.Asp33150=
ENST00000615779.4:c.99450C>T (TTN) ENSP00000483597.1:p.Asp33150=
NM_001256850.1:c.99450C>T (TTN) NP_001243779.1:p.Asp33150=
NM_001267550.2:c.104373C>T (TTN) MANE Select NP_001254479.2:p.Asp34791=
NM_003319.4:c.77178C>T (TTN) NP_003310.4:p.Asp25726=
NM_133378.4:c.96669C>T (TTN) NP_596869.4:p.Asp32223=
NM_133432.3:c.77553C>T (TTN) NP_597676.3:p.Asp25851=
NM_133437.4:c.77754C>T (TTN) NP_597681.4:p.Asp25918=
NR_038271.1:n.446+8606G>A (TTN-AS1)
NR_038272.1:n.220-3490G>A (TTN-AS1)
XM_011511729.1:c.103470C>T (TTN) XP_011510031.1:p.Asp34490=
XM_011511730.1:c.77364C>T (TTN) XP_011510032.1:p.Asp25788=
XM_011511731.1:c.77223C>T (TTN) XP_011510033.1:p.Asp25741=
XM_017004819.1:c.103266C>T (TTN) XP_016860308.1:p.Asp34422=
XM_017004820.1:c.98664C>T (TTN) XP_016860309.1:p.Asp32888=
XM_017004821.1:c.98661C>T (TTN) XP_016860310.1:p.Asp32887=
XM_017004822.1:c.95703C>T (TTN) XP_016860311.1:p.Asp31901=
XM_017004823.1:c.77319C>T (TTN) XP_016860312.1:p.Asp25773=
XM_024453094.1:c.98814C>T (TTN) XP_024308862.1:p.Asp32938=
XM_024453095.1:c.98811C>T (TTN) XP_024308863.1:p.Asp32937=
XM_024453096.1:c.98244C>T (TTN) XP_024308864.1:p.Asp32748=
XM_024453097.1:c.95586C>T (TTN) XP_024308865.1:p.Asp31862=
XM_024453098.1:c.95505C>T (TTN) XP_024308866.1:p.Asp31835=
XM_024453099.1:c.77268C>T (TTN) XP_024308867.1:p.Asp25756=
XM_024453100.1:c.67122C>T (TTN) XP_024308868.1:p.Asp22374=