Canonical Allele Identifier: CA430235127

Linked Data

MyVariant Identifiers: chr2:g.179395244T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530517T>G , CM000664.2:g.178530517T>G GRCh38
NC_000002.11:g.179395244T>G , CM000664.1:g.179395244T>G GRCh37
NC_000002.10:g.179103490T>G NCBI36
NG_011618.3:g.305286A>C , LRG_391:g.305286A>C
NG_051363.1:g.12691T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98394A>C (TTN) ENSP00000343764.6:p.Gly32798=
ENST00000342175.11:c.79479A>C (TTN) ENSP00000340554.6:p.Gly26493=
ENST00000359218.10:c.79278A>C (TTN) ENSP00000352154.5:p.Gly26426=
ENST00000342175.10:c.79479A>C (TTN) ENSP00000340554.6:p.Gly26493=
ENST00000342992.10:c.98394A>C (TTN) ENSP00000343764.6:p.Gly32798=
ENST00000359218.9:c.79278A>C (TTN) ENSP00000352154.5:p.Gly26426=
ENST00000460472.6:c.78903A>C (TTN) ENSP00000434586.1:p.Gly26301=
ENST00000589042.5:c.106098A>C (TTN) MANE Select ENSP00000467141.1:p.Gly35366=
ENST00000591111.5:c.101175A>C (TTN) ENSP00000465570.1:p.Gly33725=
ENST00000615779.4:c.101175A>C (TTN) ENSP00000483597.1:p.Gly33725=
NM_001256850.1:c.101175A>C (TTN) NP_001243779.1:p.Gly33725=
NM_001267550.2:c.106098A>C (TTN) MANE Select NP_001254479.2:p.Gly35366=
NM_003319.4:c.78903A>C (TTN) NP_003310.4:p.Gly26301=
NM_133378.4:c.98394A>C (TTN) NP_596869.4:p.Gly32798=
NM_133432.3:c.79278A>C (TTN) NP_597676.3:p.Gly26426=
NM_133437.4:c.79479A>C (TTN) NP_597681.4:p.Gly26493=
NR_038271.1:n.446+6881T>G (TTN-AS1)
NR_038272.1:n.220-5215T>G (TTN-AS1)
XM_011511729.1:c.105195A>C (TTN) XP_011510031.1:p.Gly35065=
XM_011511730.1:c.79089A>C (TTN) XP_011510032.1:p.Gly26363=
XM_011511731.1:c.78948A>C (TTN) XP_011510033.1:p.Gly26316=
XM_017004819.1:c.104991A>C (TTN) XP_016860308.1:p.Gly34997=
XM_017004820.1:c.100389A>C (TTN) XP_016860309.1:p.Gly33463=
XM_017004821.1:c.100386A>C (TTN) XP_016860310.1:p.Gly33462=
XM_017004822.1:c.97428A>C (TTN) XP_016860311.1:p.Gly32476=
XM_017004823.1:c.79044A>C (TTN) XP_016860312.1:p.Gly26348=
XM_024453094.1:c.100539A>C (TTN) XP_024308862.1:p.Gly33513=
XM_024453095.1:c.100536A>C (TTN) XP_024308863.1:p.Gly33512=
XM_024453096.1:c.99969A>C (TTN) XP_024308864.1:p.Gly33323=
XM_024453097.1:c.97311A>C (TTN) XP_024308865.1:p.Gly32437=
XM_024453098.1:c.97230A>C (TTN) XP_024308866.1:p.Gly32410=
XM_024453099.1:c.78993A>C (TTN) XP_024308867.1:p.Gly26331=
XM_024453100.1:c.68847A>C (TTN) XP_024308868.1:p.Gly22949=