Canonical Allele Identifier: CA430094035

Linked Data

MyVariant Identifiers: chr2:g.179394823T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530096T>C , CM000664.2:g.178530096T>C GRCh38
NC_000002.11:g.179394823T>C , CM000664.1:g.179394823T>C GRCh37
NC_000002.10:g.179103069T>C NCBI36
NG_011618.3:g.305707A>G , LRG_391:g.305707A>G
NG_051363.1:g.12270T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98691A>G (TTN) ENSP00000343764.6:p.Lys32897=
ENST00000342175.11:c.79776A>G (TTN) ENSP00000340554.6:p.Lys26592=
ENST00000359218.10:c.79575A>G (TTN) ENSP00000352154.5:p.Lys26525=
ENST00000342175.10:c.79776A>G (TTN) ENSP00000340554.6:p.Lys26592=
ENST00000342992.10:c.98691A>G (TTN) ENSP00000343764.6:p.Lys32897=
ENST00000359218.9:c.79575A>G (TTN) ENSP00000352154.5:p.Lys26525=
ENST00000460472.6:c.79200A>G (TTN) ENSP00000434586.1:p.Lys26400=
ENST00000589042.5:c.106395A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35465=
ENST00000591111.5:c.101472A>G (TTN) ENSP00000465570.1:p.Lys33824=
ENST00000615779.4:c.101472A>G (TTN) ENSP00000483597.1:p.Lys33824=
NM_001256850.1:c.101472A>G (TTN) NP_001243779.1:p.Lys33824=
NM_001267550.2:c.106395A>G (TTN) MANE Select NP_001254479.2:p.Lys35465=
NM_003319.4:c.79200A>G (TTN) NP_003310.4:p.Lys26400=
NM_133378.4:c.98691A>G (TTN) NP_596869.4:p.Lys32897=
NM_133432.3:c.79575A>G (TTN) NP_597676.3:p.Lys26525=
NM_133437.4:c.79776A>G (TTN) NP_597681.4:p.Lys26592=
NR_038271.1:n.446+6460T>C (TTN-AS1)
NR_038272.1:n.220-5636T>C (TTN-AS1)
XM_011511729.1:c.105492A>G (TTN) XP_011510031.1:p.Lys35164=
XM_011511730.1:c.79386A>G (TTN) XP_011510032.1:p.Lys26462=
XM_011511731.1:c.79245A>G (TTN) XP_011510033.1:p.Lys26415=
XM_017004819.1:c.105288A>G (TTN) XP_016860308.1:p.Lys35096=
XM_017004820.1:c.100686A>G (TTN) XP_016860309.1:p.Lys33562=
XM_017004821.1:c.100683A>G (TTN) XP_016860310.1:p.Lys33561=
XM_017004822.1:c.97725A>G (TTN) XP_016860311.1:p.Lys32575=
XM_017004823.1:c.79341A>G (TTN) XP_016860312.1:p.Lys26447=
XM_024453094.1:c.100836A>G (TTN) XP_024308862.1:p.Lys33612=
XM_024453095.1:c.100833A>G (TTN) XP_024308863.1:p.Lys33611=
XM_024453096.1:c.100266A>G (TTN) XP_024308864.1:p.Lys33422=
XM_024453097.1:c.97608A>G (TTN) XP_024308865.1:p.Lys32536=
XM_024453098.1:c.97527A>G (TTN) XP_024308866.1:p.Lys32509=
XM_024453099.1:c.79290A>G (TTN) XP_024308867.1:p.Lys26430=
XM_024453100.1:c.69144A>G (TTN) XP_024308868.1:p.Lys23048=