Canonical Allele Identifier: CA430235879

Linked Data

MyVariant Identifiers: chr2:g.179396846A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532119A>C , CM000664.2:g.178532119A>C GRCh38
NC_000002.11:g.179396846A>C , CM000664.1:g.179396846A>C GRCh37
NC_000002.10:g.179105092A>C NCBI36
NG_011618.3:g.303684T>G , LRG_391:g.303684T>G
NG_051363.1:g.14293A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96792T>G (TTN) ENSP00000343764.6:p.Ser32264=
ENST00000342175.11:c.77877T>G (TTN) ENSP00000340554.6:p.Ser25959=
ENST00000359218.10:c.77676T>G (TTN) ENSP00000352154.5:p.Ser25892=
ENST00000342175.10:c.77877T>G (TTN) ENSP00000340554.6:p.Ser25959=
ENST00000342992.10:c.96792T>G (TTN) ENSP00000343764.6:p.Ser32264=
ENST00000359218.9:c.77676T>G (TTN) ENSP00000352154.5:p.Ser25892=
ENST00000460472.6:c.77301T>G (TTN) ENSP00000434586.1:p.Ser25767=
ENST00000589042.5:c.104496T>G (TTN) MANE Select ENSP00000467141.1:p.Ser34832=
ENST00000591111.5:c.99573T>G (TTN) ENSP00000465570.1:p.Ser33191=
ENST00000615779.4:c.99573T>G (TTN) ENSP00000483597.1:p.Ser33191=
NM_001256850.1:c.99573T>G (TTN) NP_001243779.1:p.Ser33191=
NM_001267550.2:c.104496T>G (TTN) MANE Select NP_001254479.2:p.Ser34832=
NM_003319.4:c.77301T>G (TTN) NP_003310.4:p.Ser25767=
NM_133378.4:c.96792T>G (TTN) NP_596869.4:p.Ser32264=
NM_133432.3:c.77676T>G (TTN) NP_597676.3:p.Ser25892=
NM_133437.4:c.77877T>G (TTN) NP_597681.4:p.Ser25959=
NR_038271.1:n.446+8483A>C (TTN-AS1)
NR_038272.1:n.220-3613A>C (TTN-AS1)
XM_011511729.1:c.103593T>G (TTN) XP_011510031.1:p.Ser34531=
XM_011511730.1:c.77487T>G (TTN) XP_011510032.1:p.Ser25829=
XM_011511731.1:c.77346T>G (TTN) XP_011510033.1:p.Ser25782=
XM_017004819.1:c.103389T>G (TTN) XP_016860308.1:p.Ser34463=
XM_017004820.1:c.98787T>G (TTN) XP_016860309.1:p.Ser32929=
XM_017004821.1:c.98784T>G (TTN) XP_016860310.1:p.Ser32928=
XM_017004822.1:c.95826T>G (TTN) XP_016860311.1:p.Ser31942=
XM_017004823.1:c.77442T>G (TTN) XP_016860312.1:p.Ser25814=
XM_024453094.1:c.98937T>G (TTN) XP_024308862.1:p.Ser32979=
XM_024453095.1:c.98934T>G (TTN) XP_024308863.1:p.Ser32978=
XM_024453096.1:c.98367T>G (TTN) XP_024308864.1:p.Ser32789=
XM_024453097.1:c.95709T>G (TTN) XP_024308865.1:p.Ser31903=
XM_024453098.1:c.95628T>G (TTN) XP_024308866.1:p.Ser31876=
XM_024453099.1:c.77391T>G (TTN) XP_024308867.1:p.Ser25797=
XM_024453100.1:c.67245T>G (TTN) XP_024308868.1:p.Ser22415=