Canonical Allele Identifier: CA430235930

Linked Data

MyVariant Identifiers: chr2:g.179396933T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532206T>A , CM000664.2:g.178532206T>A GRCh38
NC_000002.11:g.179396933T>A , CM000664.1:g.179396933T>A GRCh37
NC_000002.10:g.179105179T>A NCBI36
NG_011618.3:g.303597A>T , LRG_391:g.303597A>T
NG_051363.1:g.14380T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96705A>T (TTN) ENSP00000343764.6:p.Ser32235=
ENST00000342175.11:c.77790A>T (TTN) ENSP00000340554.6:p.Ser25930=
ENST00000359218.10:c.77589A>T (TTN) ENSP00000352154.5:p.Ser25863=
ENST00000342175.10:c.77790A>T (TTN) ENSP00000340554.6:p.Ser25930=
ENST00000342992.10:c.96705A>T (TTN) ENSP00000343764.6:p.Ser32235=
ENST00000359218.9:c.77589A>T (TTN) ENSP00000352154.5:p.Ser25863=
ENST00000460472.6:c.77214A>T (TTN) ENSP00000434586.1:p.Ser25738=
ENST00000589042.5:c.104409A>T (TTN) MANE Select ENSP00000467141.1:p.Ser34803=
ENST00000591111.5:c.99486A>T (TTN) ENSP00000465570.1:p.Ser33162=
ENST00000615779.4:c.99486A>T (TTN) ENSP00000483597.1:p.Ser33162=
NM_001256850.1:c.99486A>T (TTN) NP_001243779.1:p.Ser33162=
NM_001267550.2:c.104409A>T (TTN) MANE Select NP_001254479.2:p.Ser34803=
NM_003319.4:c.77214A>T (TTN) NP_003310.4:p.Ser25738=
NM_133378.4:c.96705A>T (TTN) NP_596869.4:p.Ser32235=
NM_133432.3:c.77589A>T (TTN) NP_597676.3:p.Ser25863=
NM_133437.4:c.77790A>T (TTN) NP_597681.4:p.Ser25930=
NR_038271.1:n.446+8570T>A (TTN-AS1)
NR_038272.1:n.220-3526T>A (TTN-AS1)
XM_011511729.1:c.103506A>T (TTN) XP_011510031.1:p.Ser34502=
XM_011511730.1:c.77400A>T (TTN) XP_011510032.1:p.Ser25800=
XM_011511731.1:c.77259A>T (TTN) XP_011510033.1:p.Ser25753=
XM_017004819.1:c.103302A>T (TTN) XP_016860308.1:p.Ser34434=
XM_017004820.1:c.98700A>T (TTN) XP_016860309.1:p.Ser32900=
XM_017004821.1:c.98697A>T (TTN) XP_016860310.1:p.Ser32899=
XM_017004822.1:c.95739A>T (TTN) XP_016860311.1:p.Ser31913=
XM_017004823.1:c.77355A>T (TTN) XP_016860312.1:p.Ser25785=
XM_024453094.1:c.98850A>T (TTN) XP_024308862.1:p.Ser32950=
XM_024453095.1:c.98847A>T (TTN) XP_024308863.1:p.Ser32949=
XM_024453096.1:c.98280A>T (TTN) XP_024308864.1:p.Ser32760=
XM_024453097.1:c.95622A>T (TTN) XP_024308865.1:p.Ser31874=
XM_024453098.1:c.95541A>T (TTN) XP_024308866.1:p.Ser31847=
XM_024453099.1:c.77304A>T (TTN) XP_024308867.1:p.Ser25768=
XM_024453100.1:c.67158A>T (TTN) XP_024308868.1:p.Ser22386=