Canonical Allele Identifier: CA430266496

Linked Data

MyVariant Identifiers: chr2:g.179455846G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591119G>A , CM000664.2:g.178591119G>A GRCh38
NC_000002.11:g.179455846G>A , CM000664.1:g.179455846G>A GRCh37
NC_000002.10:g.179164092G>A NCBI36
NG_011618.3:g.244684C>T , LRG_391:g.244684C>T
NG_051363.1:g.73293G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52902C>T (TTN) ENSP00000343764.6:p.Ser17634=
ENST00000342175.11:c.33987C>T (TTN) ENSP00000340554.6:p.Ser11329=
ENST00000359218.10:c.33786C>T (TTN) ENSP00000352154.5:p.Ser11262=
ENST00000342175.10:c.33987C>T (TTN) ENSP00000340554.6:p.Ser11329=
ENST00000342992.10:c.52902C>T (TTN) ENSP00000343764.6:p.Ser17634=
ENST00000359218.9:c.33786C>T (TTN) ENSP00000352154.5:p.Ser11262=
ENST00000460472.6:c.33411C>T (TTN) ENSP00000434586.1:p.Ser11137=
ENST00000589042.5:c.60606C>T (TTN) MANE Select ENSP00000467141.1:p.Ser20202=
ENST00000591111.5:c.55683C>T (TTN) ENSP00000465570.1:p.Ser18561=
ENST00000615779.4:c.55683C>T (TTN) ENSP00000483597.1:p.Ser18561=
NM_001256850.1:c.55683C>T (TTN) NP_001243779.1:p.Ser18561=
NM_001267550.2:c.60606C>T (TTN) MANE Select NP_001254479.2:p.Ser20202=
NM_003319.4:c.33411C>T (TTN) NP_003310.4:p.Ser11137=
NM_133378.4:c.52902C>T (TTN) NP_596869.4:p.Ser17634=
NM_133432.3:c.33786C>T (TTN) NP_597676.3:p.Ser11262=
NM_133437.4:c.33987C>T (TTN) NP_597681.4:p.Ser11329=
NR_038271.1:n.597-6477G>A (TTN-AS1)
NR_038272.1:n.3189-20G>A (TTN-AS1)
XM_011511729.1:c.59703C>T (TTN) XP_011510031.1:p.Ser19901=
XM_011511730.1:c.33597C>T (TTN) XP_011510032.1:p.Ser11199=
XM_011511731.1:c.33456C>T (TTN) XP_011510033.1:p.Ser11152=
XM_017004819.1:c.59499C>T (TTN) XP_016860308.1:p.Ser19833=
XM_017004820.1:c.54897C>T (TTN) XP_016860309.1:p.Ser18299=
XM_017004821.1:c.54894C>T (TTN) XP_016860310.1:p.Ser18298=
XM_017004822.1:c.51936C>T (TTN) XP_016860311.1:p.Ser17312=
XM_017004823.1:c.33552C>T (TTN) XP_016860312.1:p.Ser11184=
XM_024453094.1:c.55047C>T (TTN) XP_024308862.1:p.Ser18349=
XM_024453095.1:c.55044C>T (TTN) XP_024308863.1:p.Ser18348=
XM_024453096.1:c.54477C>T (TTN) XP_024308864.1:p.Ser18159=
XM_024453097.1:c.51819C>T (TTN) XP_024308865.1:p.Ser17273=
XM_024453098.1:c.51738C>T (TTN) XP_024308866.1:p.Ser17246=
XM_024453099.1:c.33501C>T (TTN) XP_024308867.1:p.Ser11167=
XM_024453100.1:c.23355C>T (TTN) XP_024308868.1:p.Ser7785=