Canonical Allele Identifier: CA430093834

Linked Data

MyVariant Identifiers: chr2:g.179394763A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530036A>G , CM000664.2:g.178530036A>G GRCh38
NC_000002.11:g.179394763A>G , CM000664.1:g.179394763A>G GRCh37
NC_000002.10:g.179103009A>G NCBI36
NG_011618.3:g.305767T>C , LRG_391:g.305767T>C
NG_051363.1:g.12210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98751T>C (TTN) ENSP00000343764.6:p.Ser32917=
ENST00000342175.11:c.79836T>C (TTN) ENSP00000340554.6:p.Ser26612=
ENST00000359218.10:c.79635T>C (TTN) ENSP00000352154.5:p.Ser26545=
ENST00000342175.10:c.79836T>C (TTN) ENSP00000340554.6:p.Ser26612=
ENST00000342992.10:c.98751T>C (TTN) ENSP00000343764.6:p.Ser32917=
ENST00000359218.9:c.79635T>C (TTN) ENSP00000352154.5:p.Ser26545=
ENST00000460472.6:c.79260T>C (TTN) ENSP00000434586.1:p.Ser26420=
ENST00000589042.5:c.106455T>C (TTN) MANE Select ENSP00000467141.1:p.Ser35485=
ENST00000591111.5:c.101532T>C (TTN) ENSP00000465570.1:p.Ser33844=
ENST00000615779.4:c.101532T>C (TTN) ENSP00000483597.1:p.Ser33844=
NM_001256850.1:c.101532T>C (TTN) NP_001243779.1:p.Ser33844=
NM_001267550.2:c.106455T>C (TTN) MANE Select NP_001254479.2:p.Ser35485=
NM_003319.4:c.79260T>C (TTN) NP_003310.4:p.Ser26420=
NM_133378.4:c.98751T>C (TTN) NP_596869.4:p.Ser32917=
NM_133432.3:c.79635T>C (TTN) NP_597676.3:p.Ser26545=
NM_133437.4:c.79836T>C (TTN) NP_597681.4:p.Ser26612=
NR_038271.1:n.446+6400A>G (TTN-AS1)
NR_038272.1:n.220-5696A>G (TTN-AS1)
XM_011511729.1:c.105552T>C (TTN) XP_011510031.1:p.Ser35184=
XM_011511730.1:c.79446T>C (TTN) XP_011510032.1:p.Ser26482=
XM_011511731.1:c.79305T>C (TTN) XP_011510033.1:p.Ser26435=
XM_017004819.1:c.105348T>C (TTN) XP_016860308.1:p.Ser35116=
XM_017004820.1:c.100746T>C (TTN) XP_016860309.1:p.Ser33582=
XM_017004821.1:c.100743T>C (TTN) XP_016860310.1:p.Ser33581=
XM_017004822.1:c.97785T>C (TTN) XP_016860311.1:p.Ser32595=
XM_017004823.1:c.79401T>C (TTN) XP_016860312.1:p.Ser26467=
XM_024453094.1:c.100896T>C (TTN) XP_024308862.1:p.Ser33632=
XM_024453095.1:c.100893T>C (TTN) XP_024308863.1:p.Ser33631=
XM_024453096.1:c.100326T>C (TTN) XP_024308864.1:p.Ser33442=
XM_024453097.1:c.97668T>C (TTN) XP_024308865.1:p.Ser32556=
XM_024453098.1:c.97587T>C (TTN) XP_024308866.1:p.Ser32529=
XM_024453099.1:c.79350T>C (TTN) XP_024308867.1:p.Ser26450=
XM_024453100.1:c.69204T>C (TTN) XP_024308868.1:p.Ser23068=