Canonical Allele Identifier: CA430241530

Linked Data

MyVariant Identifiers: chr2:g.179408814A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544087A>G , CM000664.2:g.178544087A>G GRCh38
NC_000002.11:g.179408814A>G , CM000664.1:g.179408814A>G GRCh37
NC_000002.10:g.179117060A>G NCBI36
NG_011618.3:g.291716T>C , LRG_391:g.291716T>C
NG_051363.1:g.26261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88353T>C (TTN) ENSP00000343764.6:p.Asp29451=
ENST00000342175.11:c.69438T>C (TTN) ENSP00000340554.6:p.Asp23146=
ENST00000359218.10:c.69237T>C (TTN) ENSP00000352154.5:p.Asp23079=
ENST00000342175.10:c.69438T>C (TTN) ENSP00000340554.6:p.Asp23146=
ENST00000342992.10:c.88353T>C (TTN) ENSP00000343764.6:p.Asp29451=
ENST00000359218.9:c.69237T>C (TTN) ENSP00000352154.5:p.Asp23079=
ENST00000460472.6:c.68862T>C (TTN) ENSP00000434586.1:p.Asp22954=
ENST00000589042.5:c.96057T>C (TTN) MANE Select ENSP00000467141.1:p.Asp32019=
ENST00000591111.5:c.91134T>C (TTN) ENSP00000465570.1:p.Asp30378=
ENST00000615779.4:c.91134T>C (TTN) ENSP00000483597.1:p.Asp30378=
NM_001256850.1:c.91134T>C (TTN) NP_001243779.1:p.Asp30378=
NM_001267550.2:c.96057T>C (TTN) MANE Select NP_001254479.2:p.Asp32019=
NM_003319.4:c.68862T>C (TTN) NP_003310.4:p.Asp22954=
NM_133378.4:c.88353T>C (TTN) NP_596869.4:p.Asp29451=
NM_133432.3:c.69237T>C (TTN) NP_597676.3:p.Asp23079=
NM_133437.4:c.69438T>C (TTN) NP_597681.4:p.Asp23146=
NR_038271.1:n.446+20451A>G (TTN-AS1)
NR_038272.1:n.2043+1726A>G (TTN-AS1)
XM_011511729.1:c.95154T>C (TTN) XP_011510031.1:p.Asp31718=
XM_011511730.1:c.69048T>C (TTN) XP_011510032.1:p.Asp23016=
XM_011511731.1:c.68907T>C (TTN) XP_011510033.1:p.Asp22969=
XM_017004819.1:c.94950T>C (TTN) XP_016860308.1:p.Asp31650=
XM_017004820.1:c.90348T>C (TTN) XP_016860309.1:p.Asp30116=
XM_017004821.1:c.90345T>C (TTN) XP_016860310.1:p.Asp30115=
XM_017004822.1:c.87387T>C (TTN) XP_016860311.1:p.Asp29129=
XM_017004823.1:c.69003T>C (TTN) XP_016860312.1:p.Asp23001=
XM_024453094.1:c.90498T>C (TTN) XP_024308862.1:p.Asp30166=
XM_024453095.1:c.90495T>C (TTN) XP_024308863.1:p.Asp30165=
XM_024453096.1:c.89928T>C (TTN) XP_024308864.1:p.Asp29976=
XM_024453097.1:c.87270T>C (TTN) XP_024308865.1:p.Asp29090=
XM_024453098.1:c.87189T>C (TTN) XP_024308866.1:p.Asp29063=
XM_024453099.1:c.68952T>C (TTN) XP_024308867.1:p.Asp22984=
XM_024453100.1:c.58806T>C (TTN) XP_024308868.1:p.Asp19602=