Canonical Allele Identifier: CA430244842

Linked Data

MyVariant Identifiers: chr2:g.179414541C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549814C>T , CM000664.2:g.178549814C>T GRCh38
NC_000002.11:g.179414541C>T , CM000664.1:g.179414541C>T GRCh37
NC_000002.10:g.179122787C>T NCBI36
NG_011618.3:g.285989G>A , LRG_391:g.285989G>A
NG_051363.1:g.31988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84204G>A (TTN) ENSP00000343764.6:p.Lys28068=
ENST00000342175.11:c.65289G>A (TTN) ENSP00000340554.6:p.Lys21763=
ENST00000359218.10:c.65088G>A (TTN) ENSP00000352154.5:p.Lys21696=
ENST00000342175.10:c.65289G>A (TTN) ENSP00000340554.6:p.Lys21763=
ENST00000342992.10:c.84204G>A (TTN) ENSP00000343764.6:p.Lys28068=
ENST00000359218.9:c.65088G>A (TTN) ENSP00000352154.5:p.Lys21696=
ENST00000460472.6:c.64713G>A (TTN) ENSP00000434586.1:p.Lys21571=
ENST00000589042.5:c.91908G>A (TTN) MANE Select ENSP00000467141.1:p.Lys30636=
ENST00000591111.5:c.86985G>A (TTN) ENSP00000465570.1:p.Lys28995=
ENST00000615779.4:c.86985G>A (TTN) ENSP00000483597.1:p.Lys28995=
NM_001256850.1:c.86985G>A (TTN) NP_001243779.1:p.Lys28995=
NM_001267550.2:c.91908G>A (TTN) MANE Select NP_001254479.2:p.Lys30636=
NM_003319.4:c.64713G>A (TTN) NP_003310.4:p.Lys21571=
NM_133378.4:c.84204G>A (TTN) NP_596869.4:p.Lys28068=
NM_133432.3:c.65088G>A (TTN) NP_597676.3:p.Lys21696=
NM_133437.4:c.65289G>A (TTN) NP_597681.4:p.Lys21763=
NR_038271.1:n.447-21486C>T (TTN-AS1)
NR_038272.1:n.2043+7453C>T (TTN-AS1)
XM_011511729.1:c.91005G>A (TTN) XP_011510031.1:p.Lys30335=
XM_011511730.1:c.64899G>A (TTN) XP_011510032.1:p.Lys21633=
XM_011511731.1:c.64758G>A (TTN) XP_011510033.1:p.Lys21586=
XM_017004819.1:c.90801G>A (TTN) XP_016860308.1:p.Lys30267=
XM_017004820.1:c.86199G>A (TTN) XP_016860309.1:p.Lys28733=
XM_017004821.1:c.86196G>A (TTN) XP_016860310.1:p.Lys28732=
XM_017004822.1:c.83238G>A (TTN) XP_016860311.1:p.Lys27746=
XM_017004823.1:c.64854G>A (TTN) XP_016860312.1:p.Lys21618=
XM_024453094.1:c.86349G>A (TTN) XP_024308862.1:p.Lys28783=
XM_024453095.1:c.86346G>A (TTN) XP_024308863.1:p.Lys28782=
XM_024453096.1:c.85779G>A (TTN) XP_024308864.1:p.Lys28593=
XM_024453097.1:c.83121G>A (TTN) XP_024308865.1:p.Lys27707=
XM_024453098.1:c.83040G>A (TTN) XP_024308866.1:p.Lys27680=
XM_024453099.1:c.64803G>A (TTN) XP_024308867.1:p.Lys21601=
XM_024453100.1:c.54657G>A (TTN) XP_024308868.1:p.Lys18219=