Canonical Allele Identifier: CA430238966

Linked Data

MyVariant Identifiers: chr2:g.179401804T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537077T>A , CM000664.2:g.178537077T>A GRCh38
NC_000002.11:g.179401804T>A , CM000664.1:g.179401804T>A GRCh37
NC_000002.10:g.179110050T>A NCBI36
NG_011618.3:g.298726A>T , LRG_391:g.298726A>T
NG_051363.1:g.19251T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92328A>T (TTN) ENSP00000343764.6:p.Ser30776=
ENST00000342175.11:c.73413A>T (TTN) ENSP00000340554.6:p.Ser24471=
ENST00000359218.10:c.73212A>T (TTN) ENSP00000352154.5:p.Ser24404=
ENST00000342175.10:c.73413A>T (TTN) ENSP00000340554.6:p.Ser24471=
ENST00000342992.10:c.92328A>T (TTN) ENSP00000343764.6:p.Ser30776=
ENST00000359218.9:c.73212A>T (TTN) ENSP00000352154.5:p.Ser24404=
ENST00000460472.6:c.72837A>T (TTN) ENSP00000434586.1:p.Ser24279=
ENST00000589042.5:c.100032A>T (TTN) MANE Select ENSP00000467141.1:p.Ser33344=
ENST00000591111.5:c.95109A>T (TTN) ENSP00000465570.1:p.Ser31703=
ENST00000615779.4:c.95109A>T (TTN) ENSP00000483597.1:p.Ser31703=
NM_001256850.1:c.95109A>T (TTN) NP_001243779.1:p.Ser31703=
NM_001267550.2:c.100032A>T (TTN) MANE Select NP_001254479.2:p.Ser33344=
NM_003319.4:c.72837A>T (TTN) NP_003310.4:p.Ser24279=
NM_133378.4:c.92328A>T (TTN) NP_596869.4:p.Ser30776=
NM_133432.3:c.73212A>T (TTN) NP_597676.3:p.Ser24404=
NM_133437.4:c.73413A>T (TTN) NP_597681.4:p.Ser24471=
NR_038271.1:n.446+13441T>A (TTN-AS1)
NR_038272.1:n.317-284T>A (TTN-AS1)
XM_011511729.1:c.99129A>T (TTN) XP_011510031.1:p.Ser33043=
XM_011511730.1:c.73023A>T (TTN) XP_011510032.1:p.Ser24341=
XM_011511731.1:c.72882A>T (TTN) XP_011510033.1:p.Ser24294=
XM_017004819.1:c.98925A>T (TTN) XP_016860308.1:p.Ser32975=
XM_017004820.1:c.94323A>T (TTN) XP_016860309.1:p.Ser31441=
XM_017004821.1:c.94320A>T (TTN) XP_016860310.1:p.Ser31440=
XM_017004822.1:c.91362A>T (TTN) XP_016860311.1:p.Ser30454=
XM_017004823.1:c.72978A>T (TTN) XP_016860312.1:p.Ser24326=
XM_024453094.1:c.94473A>T (TTN) XP_024308862.1:p.Ser31491=
XM_024453095.1:c.94470A>T (TTN) XP_024308863.1:p.Ser31490=
XM_024453096.1:c.93903A>T (TTN) XP_024308864.1:p.Ser31301=
XM_024453097.1:c.91245A>T (TTN) XP_024308865.1:p.Ser30415=
XM_024453098.1:c.91164A>T (TTN) XP_024308866.1:p.Ser30388=
XM_024453099.1:c.72927A>T (TTN) XP_024308867.1:p.Ser24309=
XM_024453100.1:c.62781A>T (TTN) XP_024308868.1:p.Ser20927=