Canonical Allele Identifier: CA430274639

Linked Data

MyVariant Identifiers: chr2:g.179482944G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618217G>A , CM000664.2:g.178618217G>A GRCh38
NC_000002.11:g.179482944G>A , CM000664.1:g.179482944G>A GRCh37
NC_000002.10:g.179191189G>A NCBI36
NG_011618.3:g.217586C>T , LRG_391:g.217586C>T
NG_051363.1:g.100391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39537C>T (TTN) ENSP00000343764.6:p.Asp13179=
ENST00000342175.11:c.20622C>T (TTN) ENSP00000340554.6:p.Asp6874=
ENST00000359218.10:c.20421C>T (TTN) ENSP00000352154.5:p.Asp6807=
ENST00000342175.10:c.20622C>T (TTN) ENSP00000340554.6:p.Asp6874=
ENST00000342992.10:c.39537C>T (TTN) ENSP00000343764.6:p.Asp13179=
ENST00000359218.9:c.20421C>T (TTN) ENSP00000352154.5:p.Asp6807=
ENST00000460472.6:c.20046C>T (TTN) ENSP00000434586.1:p.Asp6682=
ENST00000589042.5:c.47241C>T (TTN) MANE Select ENSP00000467141.1:p.Asp15747=
ENST00000591111.5:c.42318C>T (TTN) ENSP00000465570.1:p.Asp14106=
ENST00000615779.4:c.42318C>T (TTN) ENSP00000483597.1:p.Asp14106=
NM_001256850.1:c.42318C>T (TTN) NP_001243779.1:p.Asp14106=
NM_001267550.2:c.47241C>T (TTN) MANE Select NP_001254479.2:p.Asp15747=
NM_003319.4:c.20046C>T (TTN) NP_003310.4:p.Asp6682=
NM_133378.4:c.39537C>T (TTN) NP_596869.4:p.Asp13179=
NM_133432.3:c.20421C>T (TTN) NP_597676.3:p.Asp6807=
NM_133437.4:c.20622C>T (TTN) NP_597681.4:p.Asp6874=
NR_038271.1:n.1605-1536G>A (TTN-AS1)
XM_011511729.1:c.46338C>T (TTN) XP_011510031.1:p.Asp15446=
XM_011511730.1:c.20232C>T (TTN) XP_011510032.1:p.Asp6744=
XM_011511731.1:c.20091C>T (TTN) XP_011510033.1:p.Asp6697=
XM_017004819.1:c.46134C>T (TTN) XP_016860308.1:p.Asp15378=
XM_017004820.1:c.41532C>T (TTN) XP_016860309.1:p.Asp13844=
XM_017004821.1:c.41529C>T (TTN) XP_016860310.1:p.Asp13843=
XM_017004822.1:c.38571C>T (TTN) XP_016860311.1:p.Asp12857=
XM_017004823.1:c.20187C>T (TTN) XP_016860312.1:p.Asp6729=
XM_024453094.1:c.41682C>T (TTN) XP_024308862.1:p.Asp13894=
XM_024453095.1:c.41679C>T (TTN) XP_024308863.1:p.Asp13893=
XM_024453096.1:c.41112C>T (TTN) XP_024308864.1:p.Asp13704=
XM_024453097.1:c.38454C>T (TTN) XP_024308865.1:p.Asp12818=
XM_024453098.1:c.38373C>T (TTN) XP_024308866.1:p.Asp12791=
XM_024453099.1:c.20136C>T (TTN) XP_024308867.1:p.Asp6712=
XM_024453100.1:c.9990C>T (TTN) XP_024308868.1:p.Asp3330=