Canonical Allele Identifier: CA430235900

Linked Data

MyVariant Identifiers: chr2:g.179396879G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532152G>T , CM000664.2:g.178532152G>T GRCh38
NC_000002.11:g.179396879G>T , CM000664.1:g.179396879G>T GRCh37
NC_000002.10:g.179105125G>T NCBI36
NG_011618.3:g.303651C>A , LRG_391:g.303651C>A
NG_051363.1:g.14326G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96759C>A (TTN) ENSP00000343764.6:p.Ile32253=
ENST00000342175.11:c.77844C>A (TTN) ENSP00000340554.6:p.Ile25948=
ENST00000359218.10:c.77643C>A (TTN) ENSP00000352154.5:p.Ile25881=
ENST00000342175.10:c.77844C>A (TTN) ENSP00000340554.6:p.Ile25948=
ENST00000342992.10:c.96759C>A (TTN) ENSP00000343764.6:p.Ile32253=
ENST00000359218.9:c.77643C>A (TTN) ENSP00000352154.5:p.Ile25881=
ENST00000460472.6:c.77268C>A (TTN) ENSP00000434586.1:p.Ile25756=
ENST00000589042.5:c.104463C>A (TTN) MANE Select ENSP00000467141.1:p.Ile34821=
ENST00000591111.5:c.99540C>A (TTN) ENSP00000465570.1:p.Ile33180=
ENST00000615779.4:c.99540C>A (TTN) ENSP00000483597.1:p.Ile33180=
NM_001256850.1:c.99540C>A (TTN) NP_001243779.1:p.Ile33180=
NM_001267550.2:c.104463C>A (TTN) MANE Select NP_001254479.2:p.Ile34821=
NM_003319.4:c.77268C>A (TTN) NP_003310.4:p.Ile25756=
NM_133378.4:c.96759C>A (TTN) NP_596869.4:p.Ile32253=
NM_133432.3:c.77643C>A (TTN) NP_597676.3:p.Ile25881=
NM_133437.4:c.77844C>A (TTN) NP_597681.4:p.Ile25948=
NR_038271.1:n.446+8516G>T (TTN-AS1)
NR_038272.1:n.220-3580G>T (TTN-AS1)
XM_011511729.1:c.103560C>A (TTN) XP_011510031.1:p.Ile34520=
XM_011511730.1:c.77454C>A (TTN) XP_011510032.1:p.Ile25818=
XM_011511731.1:c.77313C>A (TTN) XP_011510033.1:p.Ile25771=
XM_017004819.1:c.103356C>A (TTN) XP_016860308.1:p.Ile34452=
XM_017004820.1:c.98754C>A (TTN) XP_016860309.1:p.Ile32918=
XM_017004821.1:c.98751C>A (TTN) XP_016860310.1:p.Ile32917=
XM_017004822.1:c.95793C>A (TTN) XP_016860311.1:p.Ile31931=
XM_017004823.1:c.77409C>A (TTN) XP_016860312.1:p.Ile25803=
XM_024453094.1:c.98904C>A (TTN) XP_024308862.1:p.Ile32968=
XM_024453095.1:c.98901C>A (TTN) XP_024308863.1:p.Ile32967=
XM_024453096.1:c.98334C>A (TTN) XP_024308864.1:p.Ile32778=
XM_024453097.1:c.95676C>A (TTN) XP_024308865.1:p.Ile31892=
XM_024453098.1:c.95595C>A (TTN) XP_024308866.1:p.Ile31865=
XM_024453099.1:c.77358C>A (TTN) XP_024308867.1:p.Ile25786=
XM_024453100.1:c.67212C>A (TTN) XP_024308868.1:p.Ile22404=