Canonical Allele Identifier: CA430259700

Linked Data

MyVariant Identifiers: chr2:g.179442728T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578001T>C , CM000664.2:g.178578001T>C GRCh38
NC_000002.11:g.179442728T>C , CM000664.1:g.179442728T>C GRCh37
NC_000002.10:g.179150974T>C NCBI36
NG_011618.3:g.257802A>G , LRG_391:g.257802A>G
NG_051363.1:g.60175T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60810A>G (TTN) ENSP00000343764.6:p.Ala20270=
ENST00000342175.11:c.41895A>G (TTN) ENSP00000340554.6:p.Ala13965=
ENST00000359218.10:c.41694A>G (TTN) ENSP00000352154.5:p.Ala13898=
ENST00000342175.10:c.41895A>G (TTN) ENSP00000340554.6:p.Ala13965=
ENST00000342992.10:c.60810A>G (TTN) ENSP00000343764.6:p.Ala20270=
ENST00000359218.9:c.41694A>G (TTN) ENSP00000352154.5:p.Ala13898=
ENST00000460472.6:c.41319A>G (TTN) ENSP00000434586.1:p.Ala13773=
ENST00000589042.5:c.68514A>G (TTN) MANE Select ENSP00000467141.1:p.Ala22838=
ENST00000591111.5:c.63591A>G (TTN) ENSP00000465570.1:p.Ala21197=
ENST00000615779.4:c.63591A>G (TTN) ENSP00000483597.1:p.Ala21197=
NM_001256850.1:c.63591A>G (TTN) NP_001243779.1:p.Ala21197=
NM_001267550.2:c.68514A>G (TTN) MANE Select NP_001254479.2:p.Ala22838=
NM_003319.4:c.41319A>G (TTN) NP_003310.4:p.Ala13773=
NM_133378.4:c.60810A>G (TTN) NP_596869.4:p.Ala20270=
NM_133432.3:c.41694A>G (TTN) NP_597676.3:p.Ala13898=
NM_133437.4:c.41895A>G (TTN) NP_597681.4:p.Ala13965=
NR_038271.1:n.596+6552T>C (TTN-AS1)
NR_038272.1:n.2044-4571T>C (TTN-AS1)
XM_011511729.1:c.67611A>G (TTN) XP_011510031.1:p.Ala22537=
XM_011511730.1:c.41505A>G (TTN) XP_011510032.1:p.Ala13835=
XM_011511731.1:c.41364A>G (TTN) XP_011510033.1:p.Ala13788=
XM_017004819.1:c.67407A>G (TTN) XP_016860308.1:p.Ala22469=
XM_017004820.1:c.62805A>G (TTN) XP_016860309.1:p.Ala20935=
XM_017004821.1:c.62802A>G (TTN) XP_016860310.1:p.Ala20934=
XM_017004822.1:c.59844A>G (TTN) XP_016860311.1:p.Ala19948=
XM_017004823.1:c.41460A>G (TTN) XP_016860312.1:p.Ala13820=
XM_024453094.1:c.62955A>G (TTN) XP_024308862.1:p.Ala20985=
XM_024453095.1:c.62952A>G (TTN) XP_024308863.1:p.Ala20984=
XM_024453096.1:c.62385A>G (TTN) XP_024308864.1:p.Ala20795=
XM_024453097.1:c.59727A>G (TTN) XP_024308865.1:p.Ala19909=
XM_024453098.1:c.59646A>G (TTN) XP_024308866.1:p.Ala19882=
XM_024453099.1:c.41409A>G (TTN) XP_024308867.1:p.Ala13803=
XM_024453100.1:c.31263A>G (TTN) XP_024308868.1:p.Ala10421=