Canonical Allele Identifier: CA430235867

Linked Data

MyVariant Identifiers: chr2:g.179396833G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532106G>A , CM000664.2:g.178532106G>A GRCh38
NC_000002.11:g.179396833G>A , CM000664.1:g.179396833G>A GRCh37
NC_000002.10:g.179105079G>A NCBI36
NG_011618.3:g.303697C>T , LRG_391:g.303697C>T
NG_051363.1:g.14280G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96805C>T (TTN) ENSP00000343764.6:p.Leu32269=
ENST00000342175.11:c.77890C>T (TTN) ENSP00000340554.6:p.Leu25964=
ENST00000359218.10:c.77689C>T (TTN) ENSP00000352154.5:p.Leu25897=
ENST00000342175.10:c.77890C>T (TTN) ENSP00000340554.6:p.Leu25964=
ENST00000342992.10:c.96805C>T (TTN) ENSP00000343764.6:p.Leu32269=
ENST00000359218.9:c.77689C>T (TTN) ENSP00000352154.5:p.Leu25897=
ENST00000460472.6:c.77314C>T (TTN) ENSP00000434586.1:p.Leu25772=
ENST00000589042.5:c.104509C>T (TTN) MANE Select ENSP00000467141.1:p.Leu34837=
ENST00000591111.5:c.99586C>T (TTN) ENSP00000465570.1:p.Leu33196=
ENST00000615779.4:c.99586C>T (TTN) ENSP00000483597.1:p.Leu33196=
NM_001256850.1:c.99586C>T (TTN) NP_001243779.1:p.Leu33196=
NM_001267550.2:c.104509C>T (TTN) MANE Select NP_001254479.2:p.Leu34837=
NM_003319.4:c.77314C>T (TTN) NP_003310.4:p.Leu25772=
NM_133378.4:c.96805C>T (TTN) NP_596869.4:p.Leu32269=
NM_133432.3:c.77689C>T (TTN) NP_597676.3:p.Leu25897=
NM_133437.4:c.77890C>T (TTN) NP_597681.4:p.Leu25964=
NR_038271.1:n.446+8470G>A (TTN-AS1)
NR_038272.1:n.220-3626G>A (TTN-AS1)
XM_011511729.1:c.103606C>T (TTN) XP_011510031.1:p.Leu34536=
XM_011511730.1:c.77500C>T (TTN) XP_011510032.1:p.Leu25834=
XM_011511731.1:c.77359C>T (TTN) XP_011510033.1:p.Leu25787=
XM_017004819.1:c.103402C>T (TTN) XP_016860308.1:p.Leu34468=
XM_017004820.1:c.98800C>T (TTN) XP_016860309.1:p.Leu32934=
XM_017004821.1:c.98797C>T (TTN) XP_016860310.1:p.Leu32933=
XM_017004822.1:c.95839C>T (TTN) XP_016860311.1:p.Leu31947=
XM_017004823.1:c.77455C>T (TTN) XP_016860312.1:p.Leu25819=
XM_024453094.1:c.98950C>T (TTN) XP_024308862.1:p.Leu32984=
XM_024453095.1:c.98947C>T (TTN) XP_024308863.1:p.Leu32983=
XM_024453096.1:c.98380C>T (TTN) XP_024308864.1:p.Leu32794=
XM_024453097.1:c.95722C>T (TTN) XP_024308865.1:p.Leu31908=
XM_024453098.1:c.95641C>T (TTN) XP_024308866.1:p.Leu31881=
XM_024453099.1:c.77404C>T (TTN) XP_024308867.1:p.Leu25802=
XM_024453100.1:c.67258C>T (TTN) XP_024308868.1:p.Leu22420=