Canonical Allele Identifier: CA430235187

Linked Data

MyVariant Identifiers: chr2:g.179395073A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530346A>G , CM000664.2:g.178530346A>G GRCh38
NC_000002.11:g.179395073A>G , CM000664.1:g.179395073A>G GRCh37
NC_000002.10:g.179103319A>G NCBI36
NG_011618.3:g.305457T>C , LRG_391:g.305457T>C
NG_051363.1:g.12520A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98565T>C (TTN) ENSP00000343764.6:p.Val32855=
ENST00000342175.11:c.79650T>C (TTN) ENSP00000340554.6:p.Val26550=
ENST00000359218.10:c.79449T>C (TTN) ENSP00000352154.5:p.Val26483=
ENST00000342175.10:c.79650T>C (TTN) ENSP00000340554.6:p.Val26550=
ENST00000342992.10:c.98565T>C (TTN) ENSP00000343764.6:p.Val32855=
ENST00000359218.9:c.79449T>C (TTN) ENSP00000352154.5:p.Val26483=
ENST00000460472.6:c.79074T>C (TTN) ENSP00000434586.1:p.Val26358=
ENST00000589042.5:c.106269T>C (TTN) MANE Select ENSP00000467141.1:p.Val35423=
ENST00000591111.5:c.101346T>C (TTN) ENSP00000465570.1:p.Val33782=
ENST00000615779.4:c.101346T>C (TTN) ENSP00000483597.1:p.Val33782=
NM_001256850.1:c.101346T>C (TTN) NP_001243779.1:p.Val33782=
NM_001267550.2:c.106269T>C (TTN) MANE Select NP_001254479.2:p.Val35423=
NM_003319.4:c.79074T>C (TTN) NP_003310.4:p.Val26358=
NM_133378.4:c.98565T>C (TTN) NP_596869.4:p.Val32855=
NM_133432.3:c.79449T>C (TTN) NP_597676.3:p.Val26483=
NM_133437.4:c.79650T>C (TTN) NP_597681.4:p.Val26550=
NR_038271.1:n.446+6710A>G (TTN-AS1)
NR_038272.1:n.220-5386A>G (TTN-AS1)
XM_011511729.1:c.105366T>C (TTN) XP_011510031.1:p.Val35122=
XM_011511730.1:c.79260T>C (TTN) XP_011510032.1:p.Val26420=
XM_011511731.1:c.79119T>C (TTN) XP_011510033.1:p.Val26373=
XM_017004819.1:c.105162T>C (TTN) XP_016860308.1:p.Val35054=
XM_017004820.1:c.100560T>C (TTN) XP_016860309.1:p.Val33520=
XM_017004821.1:c.100557T>C (TTN) XP_016860310.1:p.Val33519=
XM_017004822.1:c.97599T>C (TTN) XP_016860311.1:p.Val32533=
XM_017004823.1:c.79215T>C (TTN) XP_016860312.1:p.Val26405=
XM_024453094.1:c.100710T>C (TTN) XP_024308862.1:p.Val33570=
XM_024453095.1:c.100707T>C (TTN) XP_024308863.1:p.Val33569=
XM_024453096.1:c.100140T>C (TTN) XP_024308864.1:p.Val33380=
XM_024453097.1:c.97482T>C (TTN) XP_024308865.1:p.Val32494=
XM_024453098.1:c.97401T>C (TTN) XP_024308866.1:p.Val32467=
XM_024453099.1:c.79164T>C (TTN) XP_024308867.1:p.Val26388=
XM_024453100.1:c.69018T>C (TTN) XP_024308868.1:p.Val23006=