Canonical Allele Identifier: CA430242869

Linked Data

MyVariant Identifiers: chr2:g.179412465A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547738A>T , CM000664.2:g.178547738A>T GRCh38
NC_000002.11:g.179412465A>T , CM000664.1:g.179412465A>T GRCh37
NC_000002.10:g.179120711A>T NCBI36
NG_011618.3:g.288065T>A , LRG_391:g.288065T>A
NG_051363.1:g.29912A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86184T>A (TTN) ENSP00000343764.6:p.Val28728=
ENST00000342175.11:c.67269T>A (TTN) ENSP00000340554.6:p.Val22423=
ENST00000359218.10:c.67068T>A (TTN) ENSP00000352154.5:p.Val22356=
ENST00000342175.10:c.67269T>A (TTN) ENSP00000340554.6:p.Val22423=
ENST00000342992.10:c.86184T>A (TTN) ENSP00000343764.6:p.Val28728=
ENST00000359218.9:c.67068T>A (TTN) ENSP00000352154.5:p.Val22356=
ENST00000460472.6:c.66693T>A (TTN) ENSP00000434586.1:p.Val22231=
ENST00000589042.5:c.93888T>A (TTN) MANE Select ENSP00000467141.1:p.Val31296=
ENST00000591111.5:c.88965T>A (TTN) ENSP00000465570.1:p.Val29655=
ENST00000615779.4:c.88965T>A (TTN) ENSP00000483597.1:p.Val29655=
NM_001256850.1:c.88965T>A (TTN) NP_001243779.1:p.Val29655=
NM_001267550.2:c.93888T>A (TTN) MANE Select NP_001254479.2:p.Val31296=
NM_003319.4:c.66693T>A (TTN) NP_003310.4:p.Val22231=
NM_133378.4:c.86184T>A (TTN) NP_596869.4:p.Val28728=
NM_133432.3:c.67068T>A (TTN) NP_597676.3:p.Val22356=
NM_133437.4:c.67269T>A (TTN) NP_597681.4:p.Val22423=
NR_038271.1:n.447-23562A>T (TTN-AS1)
NR_038272.1:n.2043+5377A>T (TTN-AS1)
XM_011511729.1:c.92985T>A (TTN) XP_011510031.1:p.Val30995=
XM_011511730.1:c.66879T>A (TTN) XP_011510032.1:p.Val22293=
XM_011511731.1:c.66738T>A (TTN) XP_011510033.1:p.Val22246=
XM_017004819.1:c.92781T>A (TTN) XP_016860308.1:p.Val30927=
XM_017004820.1:c.88179T>A (TTN) XP_016860309.1:p.Val29393=
XM_017004821.1:c.88176T>A (TTN) XP_016860310.1:p.Val29392=
XM_017004822.1:c.85218T>A (TTN) XP_016860311.1:p.Val28406=
XM_017004823.1:c.66834T>A (TTN) XP_016860312.1:p.Val22278=
XM_024453094.1:c.88329T>A (TTN) XP_024308862.1:p.Val29443=
XM_024453095.1:c.88326T>A (TTN) XP_024308863.1:p.Val29442=
XM_024453096.1:c.87759T>A (TTN) XP_024308864.1:p.Val29253=
XM_024453097.1:c.85101T>A (TTN) XP_024308865.1:p.Val28367=
XM_024453098.1:c.85020T>A (TTN) XP_024308866.1:p.Val28340=
XM_024453099.1:c.66783T>A (TTN) XP_024308867.1:p.Val22261=
XM_024453100.1:c.56637T>A (TTN) XP_024308868.1:p.Val18879=