Canonical Allele Identifier: CA430091456

Linked Data

MyVariant Identifiers: chr2:g.179391748T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527021T>G , CM000664.2:g.178527021T>G GRCh38
NC_000002.11:g.179391748T>G , CM000664.1:g.179391748T>G GRCh37
NC_000002.10:g.179099994T>G NCBI36
NG_011618.3:g.308782A>C , LRG_391:g.308782A>C
NG_051363.1:g.9195T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100263A>C (TTN) ENSP00000343764.6:p.Arg33421=
ENST00000342175.11:c.81348A>C (TTN) ENSP00000340554.6:p.Arg27116=
ENST00000359218.10:c.81147A>C (TTN) ENSP00000352154.5:p.Arg27049=
ENST00000342175.10:c.81348A>C (TTN) ENSP00000340554.6:p.Arg27116=
ENST00000342992.10:c.100263A>C (TTN) ENSP00000343764.6:p.Arg33421=
ENST00000359218.9:c.81147A>C (TTN) ENSP00000352154.5:p.Arg27049=
ENST00000460472.6:c.80772A>C (TTN) ENSP00000434586.1:p.Arg26924=
ENST00000589042.5:c.107967A>C (TTN) MANE Select ENSP00000467141.1:p.Arg35989=
ENST00000591111.5:c.103044A>C (TTN) ENSP00000465570.1:p.Arg34348=
ENST00000615779.4:c.103044A>C (TTN) ENSP00000483597.1:p.Arg34348=
NM_001256850.1:c.103044A>C (TTN) NP_001243779.1:p.Arg34348=
NM_001267550.2:c.107967A>C (TTN) MANE Select NP_001254479.2:p.Arg35989=
NM_003319.4:c.80772A>C (TTN) NP_003310.4:p.Arg26924=
NM_133378.4:c.100263A>C (TTN) NP_596869.4:p.Arg33421=
NM_133432.3:c.81147A>C (TTN) NP_597676.3:p.Arg27049=
NM_133437.4:c.81348A>C (TTN) NP_597681.4:p.Arg27116=
NR_038271.1:n.446+3385T>G (TTN-AS1)
NR_038272.1:n.219+3385T>G (TTN-AS1)
XM_011511729.1:c.107064A>C (TTN) XP_011510031.1:p.Arg35688=
XM_011511730.1:c.80958A>C (TTN) XP_011510032.1:p.Arg26986=
XM_011511731.1:c.80817A>C (TTN) XP_011510033.1:p.Arg26939=
XM_017004819.1:c.106860A>C (TTN) XP_016860308.1:p.Arg35620=
XM_017004820.1:c.102258A>C (TTN) XP_016860309.1:p.Arg34086=
XM_017004821.1:c.102255A>C (TTN) XP_016860310.1:p.Arg34085=
XM_017004822.1:c.99297A>C (TTN) XP_016860311.1:p.Arg33099=
XM_017004823.1:c.80913A>C (TTN) XP_016860312.1:p.Arg26971=
XM_024453094.1:c.102408A>C (TTN) XP_024308862.1:p.Arg34136=
XM_024453095.1:c.102405A>C (TTN) XP_024308863.1:p.Arg34135=
XM_024453096.1:c.101838A>C (TTN) XP_024308864.1:p.Arg33946=
XM_024453097.1:c.99180A>C (TTN) XP_024308865.1:p.Arg33060=
XM_024453098.1:c.99099A>C (TTN) XP_024308866.1:p.Arg33033=
XM_024453099.1:c.80862A>C (TTN) XP_024308867.1:p.Arg26954=
XM_024453100.1:c.70716A>C (TTN) XP_024308868.1:p.Arg23572=