Canonical Allele Identifier: CA430266511

Linked Data

MyVariant Identifiers: chr2:g.179455858A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591131A>G , CM000664.2:g.178591131A>G GRCh38
NC_000002.11:g.179455858A>G , CM000664.1:g.179455858A>G GRCh37
NC_000002.10:g.179164104A>G NCBI36
NG_011618.3:g.244672T>C , LRG_391:g.244672T>C
NG_051363.1:g.73305A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52890T>C (TTN) ENSP00000343764.6:p.Asp17630=
ENST00000342175.11:c.33975T>C (TTN) ENSP00000340554.6:p.Asp11325=
ENST00000359218.10:c.33774T>C (TTN) ENSP00000352154.5:p.Asp11258=
ENST00000342175.10:c.33975T>C (TTN) ENSP00000340554.6:p.Asp11325=
ENST00000342992.10:c.52890T>C (TTN) ENSP00000343764.6:p.Asp17630=
ENST00000359218.9:c.33774T>C (TTN) ENSP00000352154.5:p.Asp11258=
ENST00000460472.6:c.33399T>C (TTN) ENSP00000434586.1:p.Asp11133=
ENST00000589042.5:c.60594T>C (TTN) MANE Select ENSP00000467141.1:p.Asp20198=
ENST00000591111.5:c.55671T>C (TTN) ENSP00000465570.1:p.Asp18557=
ENST00000615779.4:c.55671T>C (TTN) ENSP00000483597.1:p.Asp18557=
NM_001256850.1:c.55671T>C (TTN) NP_001243779.1:p.Asp18557=
NM_001267550.2:c.60594T>C (TTN) MANE Select NP_001254479.2:p.Asp20198=
NM_003319.4:c.33399T>C (TTN) NP_003310.4:p.Asp11133=
NM_133378.4:c.52890T>C (TTN) NP_596869.4:p.Asp17630=
NM_133432.3:c.33774T>C (TTN) NP_597676.3:p.Asp11258=
NM_133437.4:c.33975T>C (TTN) NP_597681.4:p.Asp11325=
NR_038271.1:n.597-6465A>G (TTN-AS1)
NR_038272.1:n.3189-8A>G (TTN-AS1)
XM_011511729.1:c.59691T>C (TTN) XP_011510031.1:p.Asp19897=
XM_011511730.1:c.33585T>C (TTN) XP_011510032.1:p.Asp11195=
XM_011511731.1:c.33444T>C (TTN) XP_011510033.1:p.Asp11148=
XM_017004819.1:c.59487T>C (TTN) XP_016860308.1:p.Asp19829=
XM_017004820.1:c.54885T>C (TTN) XP_016860309.1:p.Asp18295=
XM_017004821.1:c.54882T>C (TTN) XP_016860310.1:p.Asp18294=
XM_017004822.1:c.51924T>C (TTN) XP_016860311.1:p.Asp17308=
XM_017004823.1:c.33540T>C (TTN) XP_016860312.1:p.Asp11180=
XM_024453094.1:c.55035T>C (TTN) XP_024308862.1:p.Asp18345=
XM_024453095.1:c.55032T>C (TTN) XP_024308863.1:p.Asp18344=
XM_024453096.1:c.54465T>C (TTN) XP_024308864.1:p.Asp18155=
XM_024453097.1:c.51807T>C (TTN) XP_024308865.1:p.Asp17269=
XM_024453098.1:c.51726T>C (TTN) XP_024308866.1:p.Asp17242=
XM_024453099.1:c.33489T>C (TTN) XP_024308867.1:p.Asp11163=
XM_024453100.1:c.23343T>C (TTN) XP_024308868.1:p.Asp7781=