Canonical Allele Identifier: CA430241668

Linked Data

MyVariant Identifiers: chr2:g.179409034G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544307G>A , CM000664.2:g.178544307G>A GRCh38
NC_000002.11:g.179409034G>A , CM000664.1:g.179409034G>A GRCh37
NC_000002.10:g.179117280G>A NCBI36
NG_011618.3:g.291496C>T , LRG_391:g.291496C>T
NG_051363.1:g.26481G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88218C>T (TTN) ENSP00000343764.6:p.Asp29406=
ENST00000342175.11:c.69303C>T (TTN) ENSP00000340554.6:p.Asp23101=
ENST00000359218.10:c.69102C>T (TTN) ENSP00000352154.5:p.Asp23034=
ENST00000342175.10:c.69303C>T (TTN) ENSP00000340554.6:p.Asp23101=
ENST00000342992.10:c.88218C>T (TTN) ENSP00000343764.6:p.Asp29406=
ENST00000359218.9:c.69102C>T (TTN) ENSP00000352154.5:p.Asp23034=
ENST00000460472.6:c.68727C>T (TTN) ENSP00000434586.1:p.Asp22909=
ENST00000589042.5:c.95922C>T (TTN) MANE Select ENSP00000467141.1:p.Asp31974=
ENST00000591111.5:c.90999C>T (TTN) ENSP00000465570.1:p.Asp30333=
ENST00000615779.4:c.90999C>T (TTN) ENSP00000483597.1:p.Asp30333=
NM_001256850.1:c.90999C>T (TTN) NP_001243779.1:p.Asp30333=
NM_001267550.2:c.95922C>T (TTN) MANE Select NP_001254479.2:p.Asp31974=
NM_003319.4:c.68727C>T (TTN) NP_003310.4:p.Asp22909=
NM_133378.4:c.88218C>T (TTN) NP_596869.4:p.Asp29406=
NM_133432.3:c.69102C>T (TTN) NP_597676.3:p.Asp23034=
NM_133437.4:c.69303C>T (TTN) NP_597681.4:p.Asp23101=
NR_038271.1:n.446+20671G>A (TTN-AS1)
NR_038272.1:n.2043+1946G>A (TTN-AS1)
XM_011511729.1:c.95019C>T (TTN) XP_011510031.1:p.Asp31673=
XM_011511730.1:c.68913C>T (TTN) XP_011510032.1:p.Asp22971=
XM_011511731.1:c.68772C>T (TTN) XP_011510033.1:p.Asp22924=
XM_017004819.1:c.94815C>T (TTN) XP_016860308.1:p.Asp31605=
XM_017004820.1:c.90213C>T (TTN) XP_016860309.1:p.Asp30071=
XM_017004821.1:c.90210C>T (TTN) XP_016860310.1:p.Asp30070=
XM_017004822.1:c.87252C>T (TTN) XP_016860311.1:p.Asp29084=
XM_017004823.1:c.68868C>T (TTN) XP_016860312.1:p.Asp22956=
XM_024453094.1:c.90363C>T (TTN) XP_024308862.1:p.Asp30121=
XM_024453095.1:c.90360C>T (TTN) XP_024308863.1:p.Asp30120=
XM_024453096.1:c.89793C>T (TTN) XP_024308864.1:p.Asp29931=
XM_024453097.1:c.87135C>T (TTN) XP_024308865.1:p.Asp29045=
XM_024453098.1:c.87054C>T (TTN) XP_024308866.1:p.Asp29018=
XM_024453099.1:c.68817C>T (TTN) XP_024308867.1:p.Asp22939=
XM_024453100.1:c.58671C>T (TTN) XP_024308868.1:p.Asp19557=