Canonical Allele Identifier: CA430253817

Linked Data

MyVariant Identifiers: chr2:g.179434143G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569416G>A , CM000664.2:g.178569416G>A GRCh38
NC_000002.11:g.179434143G>A , CM000664.1:g.179434143G>A GRCh37
NC_000002.10:g.179142389G>A NCBI36
NG_011618.3:g.266387C>T , LRG_391:g.266387C>T
NG_051363.1:g.51590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69012C>T (TTN) ENSP00000343764.6:p.Asn23004=
ENST00000342175.11:c.50097C>T (TTN) ENSP00000340554.6:p.Asn16699=
ENST00000359218.10:c.49896C>T (TTN) ENSP00000352154.5:p.Asn16632=
ENST00000342175.10:c.50097C>T (TTN) ENSP00000340554.6:p.Asn16699=
ENST00000342992.10:c.69012C>T (TTN) ENSP00000343764.6:p.Asn23004=
ENST00000359218.9:c.49896C>T (TTN) ENSP00000352154.5:p.Asn16632=
ENST00000460472.6:c.49521C>T (TTN) ENSP00000434586.1:p.Asn16507=
ENST00000589042.5:c.76716C>T (TTN) MANE Select ENSP00000467141.1:p.Asn25572=
ENST00000591111.5:c.71793C>T (TTN) ENSP00000465570.1:p.Asn23931=
ENST00000615779.4:c.71793C>T (TTN) ENSP00000483597.1:p.Asn23931=
NM_001256850.1:c.71793C>T (TTN) NP_001243779.1:p.Asn23931=
NM_001267550.2:c.76716C>T (TTN) MANE Select NP_001254479.2:p.Asn25572=
NM_003319.4:c.49521C>T (TTN) NP_003310.4:p.Asn16507=
NM_133378.4:c.69012C>T (TTN) NP_596869.4:p.Asn23004=
NM_133432.3:c.49896C>T (TTN) NP_597676.3:p.Asn16632=
NM_133437.4:c.50097C>T (TTN) NP_597681.4:p.Asn16699=
NR_038271.1:n.447-1884G>A (TTN-AS1)
NR_038272.1:n.2044-13156G>A (TTN-AS1)
XM_011511729.1:c.75813C>T (TTN) XP_011510031.1:p.Asn25271=
XM_011511730.1:c.49707C>T (TTN) XP_011510032.1:p.Asn16569=
XM_011511731.1:c.49566C>T (TTN) XP_011510033.1:p.Asn16522=
XM_017004819.1:c.75609C>T (TTN) XP_016860308.1:p.Asn25203=
XM_017004820.1:c.71007C>T (TTN) XP_016860309.1:p.Asn23669=
XM_017004821.1:c.71004C>T (TTN) XP_016860310.1:p.Asn23668=
XM_017004822.1:c.68046C>T (TTN) XP_016860311.1:p.Asn22682=
XM_017004823.1:c.49662C>T (TTN) XP_016860312.1:p.Asn16554=
XM_024453094.1:c.71157C>T (TTN) XP_024308862.1:p.Asn23719=
XM_024453095.1:c.71154C>T (TTN) XP_024308863.1:p.Asn23718=
XM_024453096.1:c.70587C>T (TTN) XP_024308864.1:p.Asn23529=
XM_024453097.1:c.67929C>T (TTN) XP_024308865.1:p.Asn22643=
XM_024453098.1:c.67848C>T (TTN) XP_024308866.1:p.Asn22616=
XM_024453099.1:c.49611C>T (TTN) XP_024308867.1:p.Asn16537=
XM_024453100.1:c.39465C>T (TTN) XP_024308868.1:p.Asn13155=