Canonical Allele Identifier: CA430242407

Linked Data

MyVariant Identifiers: chr2:g.179411406A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546679A>C , CM000664.2:g.178546679A>C GRCh38
NC_000002.11:g.179411406A>C , CM000664.1:g.179411406A>C GRCh37
NC_000002.10:g.179119652A>C NCBI36
NG_011618.3:g.289124T>G , LRG_391:g.289124T>G
NG_051363.1:g.28853A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87045T>G (TTN) ENSP00000343764.6:p.Arg29015=
ENST00000342175.11:c.68130T>G (TTN) ENSP00000340554.6:p.Arg22710=
ENST00000359218.10:c.67929T>G (TTN) ENSP00000352154.5:p.Arg22643=
ENST00000342175.10:c.68130T>G (TTN) ENSP00000340554.6:p.Arg22710=
ENST00000342992.10:c.87045T>G (TTN) ENSP00000343764.6:p.Arg29015=
ENST00000359218.9:c.67929T>G (TTN) ENSP00000352154.5:p.Arg22643=
ENST00000460472.6:c.67554T>G (TTN) ENSP00000434586.1:p.Arg22518=
ENST00000589042.5:c.94749T>G (TTN) MANE Select ENSP00000467141.1:p.Arg31583=
ENST00000591111.5:c.89826T>G (TTN) ENSP00000465570.1:p.Arg29942=
ENST00000615779.4:c.89826T>G (TTN) ENSP00000483597.1:p.Arg29942=
NM_001256850.1:c.89826T>G (TTN) NP_001243779.1:p.Arg29942=
NM_001267550.2:c.94749T>G (TTN) MANE Select NP_001254479.2:p.Arg31583=
NM_003319.4:c.67554T>G (TTN) NP_003310.4:p.Arg22518=
NM_133378.4:c.87045T>G (TTN) NP_596869.4:p.Arg29015=
NM_133432.3:c.67929T>G (TTN) NP_597676.3:p.Arg22643=
NM_133437.4:c.68130T>G (TTN) NP_597681.4:p.Arg22710=
NR_038271.1:n.446+23043A>C (TTN-AS1)
NR_038272.1:n.2043+4318A>C (TTN-AS1)
XM_011511729.1:c.93846T>G (TTN) XP_011510031.1:p.Arg31282=
XM_011511730.1:c.67740T>G (TTN) XP_011510032.1:p.Arg22580=
XM_011511731.1:c.67599T>G (TTN) XP_011510033.1:p.Arg22533=
XM_017004819.1:c.93642T>G (TTN) XP_016860308.1:p.Arg31214=
XM_017004820.1:c.89040T>G (TTN) XP_016860309.1:p.Arg29680=
XM_017004821.1:c.89037T>G (TTN) XP_016860310.1:p.Arg29679=
XM_017004822.1:c.86079T>G (TTN) XP_016860311.1:p.Arg28693=
XM_017004823.1:c.67695T>G (TTN) XP_016860312.1:p.Arg22565=
XM_024453094.1:c.89190T>G (TTN) XP_024308862.1:p.Arg29730=
XM_024453095.1:c.89187T>G (TTN) XP_024308863.1:p.Arg29729=
XM_024453096.1:c.88620T>G (TTN) XP_024308864.1:p.Arg29540=
XM_024453097.1:c.85962T>G (TTN) XP_024308865.1:p.Arg28654=
XM_024453098.1:c.85881T>G (TTN) XP_024308866.1:p.Arg28627=
XM_024453099.1:c.67644T>G (TTN) XP_024308867.1:p.Arg22548=
XM_024453100.1:c.57498T>G (TTN) XP_024308868.1:p.Arg19166=