Canonical Allele Identifier: CA430257476

Linked Data

MyVariant Identifiers: chr2:g.179438607A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573880A>C , CM000664.2:g.178573880A>C GRCh38
NC_000002.11:g.179438607A>C , CM000664.1:g.179438607A>C GRCh37
NC_000002.10:g.179146853A>C NCBI36
NG_011618.3:g.261923T>G , LRG_391:g.261923T>G
NG_051363.1:g.56054A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64548T>G (TTN) ENSP00000343764.6:p.Ser21516=
ENST00000342175.11:c.45633T>G (TTN) ENSP00000340554.6:p.Ser15211=
ENST00000359218.10:c.45432T>G (TTN) ENSP00000352154.5:p.Ser15144=
ENST00000342175.10:c.45633T>G (TTN) ENSP00000340554.6:p.Ser15211=
ENST00000342992.10:c.64548T>G (TTN) ENSP00000343764.6:p.Ser21516=
ENST00000359218.9:c.45432T>G (TTN) ENSP00000352154.5:p.Ser15144=
ENST00000460472.6:c.45057T>G (TTN) ENSP00000434586.1:p.Ser15019=
ENST00000589042.5:c.72252T>G (TTN) MANE Select ENSP00000467141.1:p.Ser24084=
ENST00000591111.5:c.67329T>G (TTN) ENSP00000465570.1:p.Ser22443=
ENST00000615779.4:c.67329T>G (TTN) ENSP00000483597.1:p.Ser22443=
NM_001256850.1:c.67329T>G (TTN) NP_001243779.1:p.Ser22443=
NM_001267550.2:c.72252T>G (TTN) MANE Select NP_001254479.2:p.Ser24084=
NM_003319.4:c.45057T>G (TTN) NP_003310.4:p.Ser15019=
NM_133378.4:c.64548T>G (TTN) NP_596869.4:p.Ser21516=
NM_133432.3:c.45432T>G (TTN) NP_597676.3:p.Ser15144=
NM_133437.4:c.45633T>G (TTN) NP_597681.4:p.Ser15211=
NR_038271.1:n.596+2431A>C (TTN-AS1)
NR_038272.1:n.2044-8692A>C (TTN-AS1)
XM_011511729.1:c.71349T>G (TTN) XP_011510031.1:p.Ser23783=
XM_011511730.1:c.45243T>G (TTN) XP_011510032.1:p.Ser15081=
XM_011511731.1:c.45102T>G (TTN) XP_011510033.1:p.Ser15034=
XM_017004819.1:c.71145T>G (TTN) XP_016860308.1:p.Ser23715=
XM_017004820.1:c.66543T>G (TTN) XP_016860309.1:p.Ser22181=
XM_017004821.1:c.66540T>G (TTN) XP_016860310.1:p.Ser22180=
XM_017004822.1:c.63582T>G (TTN) XP_016860311.1:p.Ser21194=
XM_017004823.1:c.45198T>G (TTN) XP_016860312.1:p.Ser15066=
XM_024453094.1:c.66693T>G (TTN) XP_024308862.1:p.Ser22231=
XM_024453095.1:c.66690T>G (TTN) XP_024308863.1:p.Ser22230=
XM_024453096.1:c.66123T>G (TTN) XP_024308864.1:p.Ser22041=
XM_024453097.1:c.63465T>G (TTN) XP_024308865.1:p.Ser21155=
XM_024453098.1:c.63384T>G (TTN) XP_024308866.1:p.Ser21128=
XM_024453099.1:c.45147T>G (TTN) XP_024308867.1:p.Ser15049=
XM_024453100.1:c.35001T>G (TTN) XP_024308868.1:p.Ser11667=