Canonical Allele Identifier: CA430092146

Linked Data

MyVariant Identifiers: chr2:g.179392360G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527633G>A , CM000664.2:g.178527633G>A GRCh38
NC_000002.11:g.179392360G>A , CM000664.1:g.179392360G>A GRCh37
NC_000002.10:g.179100606G>A NCBI36
NG_011618.3:g.308170C>T , LRG_391:g.308170C>T
NG_051363.1:g.9807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99789C>T (TTN) ENSP00000343764.6:p.Ser33263=
ENST00000342175.11:c.80874C>T (TTN) ENSP00000340554.6:p.Ser26958=
ENST00000359218.10:c.80673C>T (TTN) ENSP00000352154.5:p.Ser26891=
ENST00000342175.10:c.80874C>T (TTN) ENSP00000340554.6:p.Ser26958=
ENST00000342992.10:c.99789C>T (TTN) ENSP00000343764.6:p.Ser33263=
ENST00000359218.9:c.80673C>T (TTN) ENSP00000352154.5:p.Ser26891=
ENST00000460472.6:c.80298C>T (TTN) ENSP00000434586.1:p.Ser26766=
ENST00000589042.5:c.107493C>T (TTN) MANE Select ENSP00000467141.1:p.Ser35831=
ENST00000591111.5:c.102570C>T (TTN) ENSP00000465570.1:p.Ser34190=
ENST00000615779.4:c.102570C>T (TTN) ENSP00000483597.1:p.Ser34190=
NM_001256850.1:c.102570C>T (TTN) NP_001243779.1:p.Ser34190=
NM_001267550.2:c.107493C>T (TTN) MANE Select NP_001254479.2:p.Ser35831=
NM_003319.4:c.80298C>T (TTN) NP_003310.4:p.Ser26766=
NM_133378.4:c.99789C>T (TTN) NP_596869.4:p.Ser33263=
NM_133432.3:c.80673C>T (TTN) NP_597676.3:p.Ser26891=
NM_133437.4:c.80874C>T (TTN) NP_597681.4:p.Ser26958=
NR_038271.1:n.446+3997G>A (TTN-AS1)
NR_038272.1:n.219+3997G>A (TTN-AS1)
XM_011511729.1:c.106590C>T (TTN) XP_011510031.1:p.Ser35530=
XM_011511730.1:c.80484C>T (TTN) XP_011510032.1:p.Ser26828=
XM_011511731.1:c.80343C>T (TTN) XP_011510033.1:p.Ser26781=
XM_017004819.1:c.106386C>T (TTN) XP_016860308.1:p.Ser35462=
XM_017004820.1:c.101784C>T (TTN) XP_016860309.1:p.Ser33928=
XM_017004821.1:c.101781C>T (TTN) XP_016860310.1:p.Ser33927=
XM_017004822.1:c.98823C>T (TTN) XP_016860311.1:p.Ser32941=
XM_017004823.1:c.80439C>T (TTN) XP_016860312.1:p.Ser26813=
XM_024453094.1:c.101934C>T (TTN) XP_024308862.1:p.Ser33978=
XM_024453095.1:c.101931C>T (TTN) XP_024308863.1:p.Ser33977=
XM_024453096.1:c.101364C>T (TTN) XP_024308864.1:p.Ser33788=
XM_024453097.1:c.98706C>T (TTN) XP_024308865.1:p.Ser32902=
XM_024453098.1:c.98625C>T (TTN) XP_024308866.1:p.Ser32875=
XM_024453099.1:c.80388C>T (TTN) XP_024308867.1:p.Ser26796=
XM_024453100.1:c.70242C>T (TTN) XP_024308868.1:p.Ser23414=