Canonical Allele Identifier: CA430244750

Linked Data

MyVariant Identifiers: chr2:g.179414484G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549757G>A , CM000664.2:g.178549757G>A GRCh38
NC_000002.11:g.179414484G>A , CM000664.1:g.179414484G>A GRCh37
NC_000002.10:g.179122730G>A NCBI36
NG_011618.3:g.286046C>T , LRG_391:g.286046C>T
NG_051363.1:g.31931G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84261C>T (TTN) ENSP00000343764.6:p.Tyr28087=
ENST00000342175.11:c.65346C>T (TTN) ENSP00000340554.6:p.Tyr21782=
ENST00000359218.10:c.65145C>T (TTN) ENSP00000352154.5:p.Tyr21715=
ENST00000342175.10:c.65346C>T (TTN) ENSP00000340554.6:p.Tyr21782=
ENST00000342992.10:c.84261C>T (TTN) ENSP00000343764.6:p.Tyr28087=
ENST00000359218.9:c.65145C>T (TTN) ENSP00000352154.5:p.Tyr21715=
ENST00000460472.6:c.64770C>T (TTN) ENSP00000434586.1:p.Tyr21590=
ENST00000589042.5:c.91965C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr30655=
ENST00000591111.5:c.87042C>T (TTN) ENSP00000465570.1:p.Tyr29014=
ENST00000615779.4:c.87042C>T (TTN) ENSP00000483597.1:p.Tyr29014=
NM_001256850.1:c.87042C>T (TTN) NP_001243779.1:p.Tyr29014=
NM_001267550.2:c.91965C>T (TTN) MANE Select NP_001254479.2:p.Tyr30655=
NM_003319.4:c.64770C>T (TTN) NP_003310.4:p.Tyr21590=
NM_133378.4:c.84261C>T (TTN) NP_596869.4:p.Tyr28087=
NM_133432.3:c.65145C>T (TTN) NP_597676.3:p.Tyr21715=
NM_133437.4:c.65346C>T (TTN) NP_597681.4:p.Tyr21782=
NR_038271.1:n.447-21543G>A (TTN-AS1)
NR_038272.1:n.2043+7396G>A (TTN-AS1)
XM_011511729.1:c.91062C>T (TTN) XP_011510031.1:p.Tyr30354=
XM_011511730.1:c.64956C>T (TTN) XP_011510032.1:p.Tyr21652=
XM_011511731.1:c.64815C>T (TTN) XP_011510033.1:p.Tyr21605=
XM_017004819.1:c.90858C>T (TTN) XP_016860308.1:p.Tyr30286=
XM_017004820.1:c.86256C>T (TTN) XP_016860309.1:p.Tyr28752=
XM_017004821.1:c.86253C>T (TTN) XP_016860310.1:p.Tyr28751=
XM_017004822.1:c.83295C>T (TTN) XP_016860311.1:p.Tyr27765=
XM_017004823.1:c.64911C>T (TTN) XP_016860312.1:p.Tyr21637=
XM_024453094.1:c.86406C>T (TTN) XP_024308862.1:p.Tyr28802=
XM_024453095.1:c.86403C>T (TTN) XP_024308863.1:p.Tyr28801=
XM_024453096.1:c.85836C>T (TTN) XP_024308864.1:p.Tyr28612=
XM_024453097.1:c.83178C>T (TTN) XP_024308865.1:p.Tyr27726=
XM_024453098.1:c.83097C>T (TTN) XP_024308866.1:p.Tyr27699=
XM_024453099.1:c.64860C>T (TTN) XP_024308867.1:p.Tyr21620=
XM_024453100.1:c.54714C>T (TTN) XP_024308868.1:p.Tyr18238=