Canonical Allele Identifier: CA430252601

Linked Data

MyVariant Identifiers: chr2:g.179432037A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567310A>T , CM000664.2:g.178567310A>T GRCh38
NC_000002.11:g.179432037A>T , CM000664.1:g.179432037A>T GRCh37
NC_000002.10:g.179140283A>T NCBI36
NG_011618.3:g.268493T>A , LRG_391:g.268493T>A
NG_051363.1:g.49484A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71118T>A (TTN) ENSP00000343764.6:p.Ser23706=
ENST00000342175.11:c.52203T>A (TTN) ENSP00000340554.6:p.Ser17401=
ENST00000359218.10:c.52002T>A (TTN) ENSP00000352154.5:p.Ser17334=
ENST00000342175.10:c.52203T>A (TTN) ENSP00000340554.6:p.Ser17401=
ENST00000342992.10:c.71118T>A (TTN) ENSP00000343764.6:p.Ser23706=
ENST00000359218.9:c.52002T>A (TTN) ENSP00000352154.5:p.Ser17334=
ENST00000460472.6:c.51627T>A (TTN) ENSP00000434586.1:p.Ser17209=
ENST00000589042.5:c.78822T>A (TTN) MANE Select ENSP00000467141.1:p.Ser26274=
ENST00000591111.5:c.73899T>A (TTN) ENSP00000465570.1:p.Ser24633=
ENST00000615779.4:c.73899T>A (TTN) ENSP00000483597.1:p.Ser24633=
NM_001256850.1:c.73899T>A (TTN) NP_001243779.1:p.Ser24633=
NM_001267550.2:c.78822T>A (TTN) MANE Select NP_001254479.2:p.Ser26274=
NM_003319.4:c.51627T>A (TTN) NP_003310.4:p.Ser17209=
NM_133378.4:c.71118T>A (TTN) NP_596869.4:p.Ser23706=
NM_133432.3:c.52002T>A (TTN) NP_597676.3:p.Ser17334=
NM_133437.4:c.52203T>A (TTN) NP_597681.4:p.Ser17401=
NR_038271.1:n.447-3990A>T (TTN-AS1)
NR_038272.1:n.2044-15262A>T (TTN-AS1)
XM_011511729.1:c.77919T>A (TTN) XP_011510031.1:p.Ser25973=
XM_011511730.1:c.51813T>A (TTN) XP_011510032.1:p.Ser17271=
XM_011511731.1:c.51672T>A (TTN) XP_011510033.1:p.Ser17224=
XM_017004819.1:c.77715T>A (TTN) XP_016860308.1:p.Ser25905=
XM_017004820.1:c.73113T>A (TTN) XP_016860309.1:p.Ser24371=
XM_017004821.1:c.73110T>A (TTN) XP_016860310.1:p.Ser24370=
XM_017004822.1:c.70152T>A (TTN) XP_016860311.1:p.Ser23384=
XM_017004823.1:c.51768T>A (TTN) XP_016860312.1:p.Ser17256=
XM_024453094.1:c.73263T>A (TTN) XP_024308862.1:p.Ser24421=
XM_024453095.1:c.73260T>A (TTN) XP_024308863.1:p.Ser24420=
XM_024453096.1:c.72693T>A (TTN) XP_024308864.1:p.Ser24231=
XM_024453097.1:c.70035T>A (TTN) XP_024308865.1:p.Ser23345=
XM_024453098.1:c.69954T>A (TTN) XP_024308866.1:p.Ser23318=
XM_024453099.1:c.51717T>A (TTN) XP_024308867.1:p.Ser17239=
XM_024453100.1:c.41571T>A (TTN) XP_024308868.1:p.Ser13857=