Canonical Allele Identifier: CA430235853

Linked Data

MyVariant Identifiers: chr2:g.179396819G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532092G>C , CM000664.2:g.178532092G>C GRCh38
NC_000002.11:g.179396819G>C , CM000664.1:g.179396819G>C GRCh37
NC_000002.10:g.179105065G>C NCBI36
NG_011618.3:g.303711C>G , LRG_391:g.303711C>G
NG_051363.1:g.14266G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96819C>G (TTN) ENSP00000343764.6:p.Arg32273=
ENST00000342175.11:c.77904C>G (TTN) ENSP00000340554.6:p.Arg25968=
ENST00000359218.10:c.77703C>G (TTN) ENSP00000352154.5:p.Arg25901=
ENST00000342175.10:c.77904C>G (TTN) ENSP00000340554.6:p.Arg25968=
ENST00000342992.10:c.96819C>G (TTN) ENSP00000343764.6:p.Arg32273=
ENST00000359218.9:c.77703C>G (TTN) ENSP00000352154.5:p.Arg25901=
ENST00000460472.6:c.77328C>G (TTN) ENSP00000434586.1:p.Arg25776=
ENST00000589042.5:c.104523C>G (TTN) MANE Select ENSP00000467141.1:p.Arg34841=
ENST00000591111.5:c.99600C>G (TTN) ENSP00000465570.1:p.Arg33200=
ENST00000615779.4:c.99600C>G (TTN) ENSP00000483597.1:p.Arg33200=
NM_001256850.1:c.99600C>G (TTN) NP_001243779.1:p.Arg33200=
NM_001267550.2:c.104523C>G (TTN) MANE Select NP_001254479.2:p.Arg34841=
NM_003319.4:c.77328C>G (TTN) NP_003310.4:p.Arg25776=
NM_133378.4:c.96819C>G (TTN) NP_596869.4:p.Arg32273=
NM_133432.3:c.77703C>G (TTN) NP_597676.3:p.Arg25901=
NM_133437.4:c.77904C>G (TTN) NP_597681.4:p.Arg25968=
NR_038271.1:n.446+8456G>C (TTN-AS1)
NR_038272.1:n.220-3640G>C (TTN-AS1)
XM_011511729.1:c.103620C>G (TTN) XP_011510031.1:p.Arg34540=
XM_011511730.1:c.77514C>G (TTN) XP_011510032.1:p.Arg25838=
XM_011511731.1:c.77373C>G (TTN) XP_011510033.1:p.Arg25791=
XM_017004819.1:c.103416C>G (TTN) XP_016860308.1:p.Arg34472=
XM_017004820.1:c.98814C>G (TTN) XP_016860309.1:p.Arg32938=
XM_017004821.1:c.98811C>G (TTN) XP_016860310.1:p.Arg32937=
XM_017004822.1:c.95853C>G (TTN) XP_016860311.1:p.Arg31951=
XM_017004823.1:c.77469C>G (TTN) XP_016860312.1:p.Arg25823=
XM_024453094.1:c.98964C>G (TTN) XP_024308862.1:p.Arg32988=
XM_024453095.1:c.98961C>G (TTN) XP_024308863.1:p.Arg32987=
XM_024453096.1:c.98394C>G (TTN) XP_024308864.1:p.Arg32798=
XM_024453097.1:c.95736C>G (TTN) XP_024308865.1:p.Arg31912=
XM_024453098.1:c.95655C>G (TTN) XP_024308866.1:p.Arg31885=
XM_024453099.1:c.77418C>G (TTN) XP_024308867.1:p.Arg25806=
XM_024453100.1:c.67272C>G (TTN) XP_024308868.1:p.Arg22424=