Canonical Allele Identifier: CA430235346

Linked Data

MyVariant Identifiers: chr2:g.179395157T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530430T>A , CM000664.2:g.178530430T>A GRCh38
NC_000002.11:g.179395157T>A , CM000664.1:g.179395157T>A GRCh37
NC_000002.10:g.179103403T>A NCBI36
NG_011618.3:g.305373A>T , LRG_391:g.305373A>T
NG_051363.1:g.12604T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98481A>T (TTN) ENSP00000343764.6:p.Ser32827=
ENST00000342175.11:c.79566A>T (TTN) ENSP00000340554.6:p.Ser26522=
ENST00000359218.10:c.79365A>T (TTN) ENSP00000352154.5:p.Ser26455=
ENST00000342175.10:c.79566A>T (TTN) ENSP00000340554.6:p.Ser26522=
ENST00000342992.10:c.98481A>T (TTN) ENSP00000343764.6:p.Ser32827=
ENST00000359218.9:c.79365A>T (TTN) ENSP00000352154.5:p.Ser26455=
ENST00000460472.6:c.78990A>T (TTN) ENSP00000434586.1:p.Ser26330=
ENST00000589042.5:c.106185A>T (TTN) MANE Select ENSP00000467141.1:p.Ser35395=
ENST00000591111.5:c.101262A>T (TTN) ENSP00000465570.1:p.Ser33754=
ENST00000615779.4:c.101262A>T (TTN) ENSP00000483597.1:p.Ser33754=
NM_001256850.1:c.101262A>T (TTN) NP_001243779.1:p.Ser33754=
NM_001267550.2:c.106185A>T (TTN) MANE Select NP_001254479.2:p.Ser35395=
NM_003319.4:c.78990A>T (TTN) NP_003310.4:p.Ser26330=
NM_133378.4:c.98481A>T (TTN) NP_596869.4:p.Ser32827=
NM_133432.3:c.79365A>T (TTN) NP_597676.3:p.Ser26455=
NM_133437.4:c.79566A>T (TTN) NP_597681.4:p.Ser26522=
NR_038271.1:n.446+6794T>A (TTN-AS1)
NR_038272.1:n.220-5302T>A (TTN-AS1)
XM_011511729.1:c.105282A>T (TTN) XP_011510031.1:p.Ser35094=
XM_011511730.1:c.79176A>T (TTN) XP_011510032.1:p.Ser26392=
XM_011511731.1:c.79035A>T (TTN) XP_011510033.1:p.Ser26345=
XM_017004819.1:c.105078A>T (TTN) XP_016860308.1:p.Ser35026=
XM_017004820.1:c.100476A>T (TTN) XP_016860309.1:p.Ser33492=
XM_017004821.1:c.100473A>T (TTN) XP_016860310.1:p.Ser33491=
XM_017004822.1:c.97515A>T (TTN) XP_016860311.1:p.Ser32505=
XM_017004823.1:c.79131A>T (TTN) XP_016860312.1:p.Ser26377=
XM_024453094.1:c.100626A>T (TTN) XP_024308862.1:p.Ser33542=
XM_024453095.1:c.100623A>T (TTN) XP_024308863.1:p.Ser33541=
XM_024453096.1:c.100056A>T (TTN) XP_024308864.1:p.Ser33352=
XM_024453097.1:c.97398A>T (TTN) XP_024308865.1:p.Ser32466=
XM_024453098.1:c.97317A>T (TTN) XP_024308866.1:p.Ser32439=
XM_024453099.1:c.79080A>T (TTN) XP_024308867.1:p.Ser26360=
XM_024453100.1:c.68934A>T (TTN) XP_024308868.1:p.Ser22978=