Canonical Allele Identifier: CA430235527

Linked Data

MyVariant Identifiers: chr2:g.179395331T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530604T>G , CM000664.2:g.178530604T>G GRCh38
NC_000002.11:g.179395331T>G , CM000664.1:g.179395331T>G GRCh37
NC_000002.10:g.179103577T>G NCBI36
NG_011618.3:g.305199A>C , LRG_391:g.305199A>C
NG_051363.1:g.12778T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98307A>C (TTN) ENSP00000343764.6:p.Ser32769=
ENST00000342175.11:c.79392A>C (TTN) ENSP00000340554.6:p.Ser26464=
ENST00000359218.10:c.79191A>C (TTN) ENSP00000352154.5:p.Ser26397=
ENST00000342175.10:c.79392A>C (TTN) ENSP00000340554.6:p.Ser26464=
ENST00000342992.10:c.98307A>C (TTN) ENSP00000343764.6:p.Ser32769=
ENST00000359218.9:c.79191A>C (TTN) ENSP00000352154.5:p.Ser26397=
ENST00000460472.6:c.78816A>C (TTN) ENSP00000434586.1:p.Ser26272=
ENST00000589042.5:c.106011A>C (TTN) MANE Select ENSP00000467141.1:p.Ser35337=
ENST00000591111.5:c.101088A>C (TTN) ENSP00000465570.1:p.Ser33696=
ENST00000615779.4:c.101088A>C (TTN) ENSP00000483597.1:p.Ser33696=
NM_001256850.1:c.101088A>C (TTN) NP_001243779.1:p.Ser33696=
NM_001267550.2:c.106011A>C (TTN) MANE Select NP_001254479.2:p.Ser35337=
NM_003319.4:c.78816A>C (TTN) NP_003310.4:p.Ser26272=
NM_133378.4:c.98307A>C (TTN) NP_596869.4:p.Ser32769=
NM_133432.3:c.79191A>C (TTN) NP_597676.3:p.Ser26397=
NM_133437.4:c.79392A>C (TTN) NP_597681.4:p.Ser26464=
NR_038271.1:n.446+6968T>G (TTN-AS1)
NR_038272.1:n.220-5128T>G (TTN-AS1)
XM_011511729.1:c.105108A>C (TTN) XP_011510031.1:p.Ser35036=
XM_011511730.1:c.79002A>C (TTN) XP_011510032.1:p.Ser26334=
XM_011511731.1:c.78861A>C (TTN) XP_011510033.1:p.Ser26287=
XM_017004819.1:c.104904A>C (TTN) XP_016860308.1:p.Ser34968=
XM_017004820.1:c.100302A>C (TTN) XP_016860309.1:p.Ser33434=
XM_017004821.1:c.100299A>C (TTN) XP_016860310.1:p.Ser33433=
XM_017004822.1:c.97341A>C (TTN) XP_016860311.1:p.Ser32447=
XM_017004823.1:c.78957A>C (TTN) XP_016860312.1:p.Ser26319=
XM_024453094.1:c.100452A>C (TTN) XP_024308862.1:p.Ser33484=
XM_024453095.1:c.100449A>C (TTN) XP_024308863.1:p.Ser33483=
XM_024453096.1:c.99882A>C (TTN) XP_024308864.1:p.Ser33294=
XM_024453097.1:c.97224A>C (TTN) XP_024308865.1:p.Ser32408=
XM_024453098.1:c.97143A>C (TTN) XP_024308866.1:p.Ser32381=
XM_024453099.1:c.78906A>C (TTN) XP_024308867.1:p.Ser26302=
XM_024453100.1:c.68760A>C (TTN) XP_024308868.1:p.Ser22920=