Canonical Allele Identifier: CA430104056

Linked Data

MyVariant Identifiers: chr2:g.179416400T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551673T>C , CM000664.2:g.178551673T>C GRCh38
NC_000002.11:g.179416400T>C , CM000664.1:g.179416400T>C GRCh37
NC_000002.10:g.179124646T>C NCBI36
NG_011618.3:g.284130A>G , LRG_391:g.284130A>G
NG_051363.1:g.33847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83523A>G (TTN) ENSP00000343764.6:p.Ser27841=
ENST00000342175.11:c.64608A>G (TTN) ENSP00000340554.6:p.Ser21536=
ENST00000359218.10:c.64407A>G (TTN) ENSP00000352154.5:p.Ser21469=
ENST00000342175.10:c.64608A>G (TTN) ENSP00000340554.6:p.Ser21536=
ENST00000342992.10:c.83523A>G (TTN) ENSP00000343764.6:p.Ser27841=
ENST00000359218.9:c.64407A>G (TTN) ENSP00000352154.5:p.Ser21469=
ENST00000460472.6:c.64032A>G (TTN) ENSP00000434586.1:p.Ser21344=
ENST00000589042.5:c.91227A>G (TTN) MANE Select ENSP00000467141.1:p.Ser30409=
ENST00000591111.5:c.86304A>G (TTN) ENSP00000465570.1:p.Ser28768=
ENST00000615779.4:c.86304A>G (TTN) ENSP00000483597.1:p.Ser28768=
NM_001256850.1:c.86304A>G (TTN) NP_001243779.1:p.Ser28768=
NM_001267550.2:c.91227A>G (TTN) MANE Select NP_001254479.2:p.Ser30409=
NM_003319.4:c.64032A>G (TTN) NP_003310.4:p.Ser21344=
NM_133378.4:c.83523A>G (TTN) NP_596869.4:p.Ser27841=
NM_133432.3:c.64407A>G (TTN) NP_597676.3:p.Ser21469=
NM_133437.4:c.64608A>G (TTN) NP_597681.4:p.Ser21536=
NR_038271.1:n.447-19627T>C (TTN-AS1)
NR_038272.1:n.2043+9312T>C (TTN-AS1)
XM_011511729.1:c.90324A>G (TTN) XP_011510031.1:p.Ser30108=
XM_011511730.1:c.64218A>G (TTN) XP_011510032.1:p.Ser21406=
XM_011511731.1:c.64077A>G (TTN) XP_011510033.1:p.Ser21359=
XM_017004819.1:c.90120A>G (TTN) XP_016860308.1:p.Ser30040=
XM_017004820.1:c.85518A>G (TTN) XP_016860309.1:p.Ser28506=
XM_017004821.1:c.85515A>G (TTN) XP_016860310.1:p.Ser28505=
XM_017004822.1:c.82557A>G (TTN) XP_016860311.1:p.Ser27519=
XM_017004823.1:c.64173A>G (TTN) XP_016860312.1:p.Ser21391=
XM_024453094.1:c.85668A>G (TTN) XP_024308862.1:p.Ser28556=
XM_024453095.1:c.85665A>G (TTN) XP_024308863.1:p.Ser28555=
XM_024453096.1:c.85098A>G (TTN) XP_024308864.1:p.Ser28366=
XM_024453097.1:c.82440A>G (TTN) XP_024308865.1:p.Ser27480=
XM_024453098.1:c.82359A>G (TTN) XP_024308866.1:p.Ser27453=
XM_024453099.1:c.64122A>G (TTN) XP_024308867.1:p.Ser21374=
XM_024453100.1:c.53976A>G (TTN) XP_024308868.1:p.Ser17992=