Canonical Allele Identifier: CA430248114

Linked Data

MyVariant Identifiers: chr2:g.179424471A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559744A>C , CM000664.2:g.178559744A>C GRCh38
NC_000002.11:g.179424471A>C , CM000664.1:g.179424471A>C GRCh37
NC_000002.10:g.179132717A>C NCBI36
NG_011618.3:g.276059T>G , LRG_391:g.276059T>G
NG_051363.1:g.41918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.78684T>G (TTN) ENSP00000343764.6:p.Arg26228=
ENST00000342175.11:c.59769T>G (TTN) ENSP00000340554.6:p.Arg19923=
ENST00000359218.10:c.59568T>G (TTN) ENSP00000352154.5:p.Arg19856=
ENST00000342175.10:c.59769T>G (TTN) ENSP00000340554.6:p.Arg19923=
ENST00000342992.10:c.78684T>G (TTN) ENSP00000343764.6:p.Arg26228=
ENST00000359218.9:c.59568T>G (TTN) ENSP00000352154.5:p.Arg19856=
ENST00000460472.6:c.59193T>G (TTN) ENSP00000434586.1:p.Arg19731=
ENST00000589042.5:c.86388T>G (TTN) MANE Select ENSP00000467141.1:p.Arg28796=
ENST00000591111.5:c.81465T>G (TTN) ENSP00000465570.1:p.Arg27155=
ENST00000615779.4:c.81465T>G (TTN) ENSP00000483597.1:p.Arg27155=
NM_001256850.1:c.81465T>G (TTN) NP_001243779.1:p.Arg27155=
NM_001267550.2:c.86388T>G (TTN) MANE Select NP_001254479.2:p.Arg28796=
NM_003319.4:c.59193T>G (TTN) NP_003310.4:p.Arg19731=
NM_133378.4:c.78684T>G (TTN) NP_596869.4:p.Arg26228=
NM_133432.3:c.59568T>G (TTN) NP_597676.3:p.Arg19856=
NM_133437.4:c.59769T>G (TTN) NP_597681.4:p.Arg19923=
NR_038271.1:n.447-11556A>C (TTN-AS1)
NR_038272.1:n.2043+17383A>C (TTN-AS1)
XM_011511729.1:c.85485T>G (TTN) XP_011510031.1:p.Arg28495=
XM_011511730.1:c.59379T>G (TTN) XP_011510032.1:p.Arg19793=
XM_011511731.1:c.59238T>G (TTN) XP_011510033.1:p.Arg19746=
XM_017004819.1:c.85281T>G (TTN) XP_016860308.1:p.Arg28427=
XM_017004820.1:c.80679T>G (TTN) XP_016860309.1:p.Arg26893=
XM_017004821.1:c.80676T>G (TTN) XP_016860310.1:p.Arg26892=
XM_017004822.1:c.77718T>G (TTN) XP_016860311.1:p.Arg25906=
XM_017004823.1:c.59334T>G (TTN) XP_016860312.1:p.Arg19778=
XM_024453094.1:c.80829T>G (TTN) XP_024308862.1:p.Arg26943=
XM_024453095.1:c.80826T>G (TTN) XP_024308863.1:p.Arg26942=
XM_024453096.1:c.80259T>G (TTN) XP_024308864.1:p.Arg26753=
XM_024453097.1:c.77601T>G (TTN) XP_024308865.1:p.Arg25867=
XM_024453098.1:c.77520T>G (TTN) XP_024308866.1:p.Arg25840=
XM_024453099.1:c.59283T>G (TTN) XP_024308867.1:p.Arg19761=
XM_024453100.1:c.49137T>G (TTN) XP_024308868.1:p.Arg16379=