Canonical Allele Identifier: CA430235094

Linked Data

MyVariant Identifiers: chr2:g.179395028T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530301T>C , CM000664.2:g.178530301T>C GRCh38
NC_000002.11:g.179395028T>C , CM000664.1:g.179395028T>C GRCh37
NC_000002.10:g.179103274T>C NCBI36
NG_011618.3:g.305502A>G , LRG_391:g.305502A>G
NG_051363.1:g.12475T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98610A>G (TTN) ENSP00000343764.6:p.Lys32870=
ENST00000342175.11:c.79695A>G (TTN) ENSP00000340554.6:p.Lys26565=
ENST00000359218.10:c.79494A>G (TTN) ENSP00000352154.5:p.Lys26498=
ENST00000342175.10:c.79695A>G (TTN) ENSP00000340554.6:p.Lys26565=
ENST00000342992.10:c.98610A>G (TTN) ENSP00000343764.6:p.Lys32870=
ENST00000359218.9:c.79494A>G (TTN) ENSP00000352154.5:p.Lys26498=
ENST00000460472.6:c.79119A>G (TTN) ENSP00000434586.1:p.Lys26373=
ENST00000589042.5:c.106314A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35438=
ENST00000591111.5:c.101391A>G (TTN) ENSP00000465570.1:p.Lys33797=
ENST00000615779.4:c.101391A>G (TTN) ENSP00000483597.1:p.Lys33797=
NM_001256850.1:c.101391A>G (TTN) NP_001243779.1:p.Lys33797=
NM_001267550.2:c.106314A>G (TTN) MANE Select NP_001254479.2:p.Lys35438=
NM_003319.4:c.79119A>G (TTN) NP_003310.4:p.Lys26373=
NM_133378.4:c.98610A>G (TTN) NP_596869.4:p.Lys32870=
NM_133432.3:c.79494A>G (TTN) NP_597676.3:p.Lys26498=
NM_133437.4:c.79695A>G (TTN) NP_597681.4:p.Lys26565=
NR_038271.1:n.446+6665T>C (TTN-AS1)
NR_038272.1:n.220-5431T>C (TTN-AS1)
XM_011511729.1:c.105411A>G (TTN) XP_011510031.1:p.Lys35137=
XM_011511730.1:c.79305A>G (TTN) XP_011510032.1:p.Lys26435=
XM_011511731.1:c.79164A>G (TTN) XP_011510033.1:p.Lys26388=
XM_017004819.1:c.105207A>G (TTN) XP_016860308.1:p.Lys35069=
XM_017004820.1:c.100605A>G (TTN) XP_016860309.1:p.Lys33535=
XM_017004821.1:c.100602A>G (TTN) XP_016860310.1:p.Lys33534=
XM_017004822.1:c.97644A>G (TTN) XP_016860311.1:p.Lys32548=
XM_017004823.1:c.79260A>G (TTN) XP_016860312.1:p.Lys26420=
XM_024453094.1:c.100755A>G (TTN) XP_024308862.1:p.Lys33585=
XM_024453095.1:c.100752A>G (TTN) XP_024308863.1:p.Lys33584=
XM_024453096.1:c.100185A>G (TTN) XP_024308864.1:p.Lys33395=
XM_024453097.1:c.97527A>G (TTN) XP_024308865.1:p.Lys32509=
XM_024453098.1:c.97446A>G (TTN) XP_024308866.1:p.Lys32482=
XM_024453099.1:c.79209A>G (TTN) XP_024308867.1:p.Lys26403=
XM_024453100.1:c.69063A>G (TTN) XP_024308868.1:p.Lys23021=