Canonical Allele Identifier: CA430235220

Linked Data

MyVariant Identifiers: chr2:g.179395088T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530361T>G , CM000664.2:g.178530361T>G GRCh38
NC_000002.11:g.179395088T>G , CM000664.1:g.179395088T>G GRCh37
NC_000002.10:g.179103334T>G NCBI36
NG_011618.3:g.305442A>C , LRG_391:g.305442A>C
NG_051363.1:g.12535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98550A>C (TTN) ENSP00000343764.6:p.Ser32850=
ENST00000342175.11:c.79635A>C (TTN) ENSP00000340554.6:p.Ser26545=
ENST00000359218.10:c.79434A>C (TTN) ENSP00000352154.5:p.Ser26478=
ENST00000342175.10:c.79635A>C (TTN) ENSP00000340554.6:p.Ser26545=
ENST00000342992.10:c.98550A>C (TTN) ENSP00000343764.6:p.Ser32850=
ENST00000359218.9:c.79434A>C (TTN) ENSP00000352154.5:p.Ser26478=
ENST00000460472.6:c.79059A>C (TTN) ENSP00000434586.1:p.Ser26353=
ENST00000589042.5:c.106254A>C (TTN) MANE Select ENSP00000467141.1:p.Ser35418=
ENST00000591111.5:c.101331A>C (TTN) ENSP00000465570.1:p.Ser33777=
ENST00000615779.4:c.101331A>C (TTN) ENSP00000483597.1:p.Ser33777=
NM_001256850.1:c.101331A>C (TTN) NP_001243779.1:p.Ser33777=
NM_001267550.2:c.106254A>C (TTN) MANE Select NP_001254479.2:p.Ser35418=
NM_003319.4:c.79059A>C (TTN) NP_003310.4:p.Ser26353=
NM_133378.4:c.98550A>C (TTN) NP_596869.4:p.Ser32850=
NM_133432.3:c.79434A>C (TTN) NP_597676.3:p.Ser26478=
NM_133437.4:c.79635A>C (TTN) NP_597681.4:p.Ser26545=
NR_038271.1:n.446+6725T>G (TTN-AS1)
NR_038272.1:n.220-5371T>G (TTN-AS1)
XM_011511729.1:c.105351A>C (TTN) XP_011510031.1:p.Ser35117=
XM_011511730.1:c.79245A>C (TTN) XP_011510032.1:p.Ser26415=
XM_011511731.1:c.79104A>C (TTN) XP_011510033.1:p.Ser26368=
XM_017004819.1:c.105147A>C (TTN) XP_016860308.1:p.Ser35049=
XM_017004820.1:c.100545A>C (TTN) XP_016860309.1:p.Ser33515=
XM_017004821.1:c.100542A>C (TTN) XP_016860310.1:p.Ser33514=
XM_017004822.1:c.97584A>C (TTN) XP_016860311.1:p.Ser32528=
XM_017004823.1:c.79200A>C (TTN) XP_016860312.1:p.Ser26400=
XM_024453094.1:c.100695A>C (TTN) XP_024308862.1:p.Ser33565=
XM_024453095.1:c.100692A>C (TTN) XP_024308863.1:p.Ser33564=
XM_024453096.1:c.100125A>C (TTN) XP_024308864.1:p.Ser33375=
XM_024453097.1:c.97467A>C (TTN) XP_024308865.1:p.Ser32489=
XM_024453098.1:c.97386A>C (TTN) XP_024308866.1:p.Ser32462=
XM_024453099.1:c.79149A>C (TTN) XP_024308867.1:p.Ser26383=
XM_024453100.1:c.69003A>C (TTN) XP_024308868.1:p.Ser23001=