Canonical Allele Identifier: CA430235884

Linked Data

MyVariant Identifiers: chr2:g.179396849T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532122T>G , CM000664.2:g.178532122T>G GRCh38
NC_000002.11:g.179396849T>G , CM000664.1:g.179396849T>G GRCh37
NC_000002.10:g.179105095T>G NCBI36
NG_011618.3:g.303681A>C , LRG_391:g.303681A>C
NG_051363.1:g.14296T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96789A>C (TTN) ENSP00000343764.6:p.Ser32263=
ENST00000342175.11:c.77874A>C (TTN) ENSP00000340554.6:p.Ser25958=
ENST00000359218.10:c.77673A>C (TTN) ENSP00000352154.5:p.Ser25891=
ENST00000342175.10:c.77874A>C (TTN) ENSP00000340554.6:p.Ser25958=
ENST00000342992.10:c.96789A>C (TTN) ENSP00000343764.6:p.Ser32263=
ENST00000359218.9:c.77673A>C (TTN) ENSP00000352154.5:p.Ser25891=
ENST00000460472.6:c.77298A>C (TTN) ENSP00000434586.1:p.Ser25766=
ENST00000589042.5:c.104493A>C (TTN) MANE Select ENSP00000467141.1:p.Ser34831=
ENST00000591111.5:c.99570A>C (TTN) ENSP00000465570.1:p.Ser33190=
ENST00000615779.4:c.99570A>C (TTN) ENSP00000483597.1:p.Ser33190=
NM_001256850.1:c.99570A>C (TTN) NP_001243779.1:p.Ser33190=
NM_001267550.2:c.104493A>C (TTN) MANE Select NP_001254479.2:p.Ser34831=
NM_003319.4:c.77298A>C (TTN) NP_003310.4:p.Ser25766=
NM_133378.4:c.96789A>C (TTN) NP_596869.4:p.Ser32263=
NM_133432.3:c.77673A>C (TTN) NP_597676.3:p.Ser25891=
NM_133437.4:c.77874A>C (TTN) NP_597681.4:p.Ser25958=
NR_038271.1:n.446+8486T>G (TTN-AS1)
NR_038272.1:n.220-3610T>G (TTN-AS1)
XM_011511729.1:c.103590A>C (TTN) XP_011510031.1:p.Ser34530=
XM_011511730.1:c.77484A>C (TTN) XP_011510032.1:p.Ser25828=
XM_011511731.1:c.77343A>C (TTN) XP_011510033.1:p.Ser25781=
XM_017004819.1:c.103386A>C (TTN) XP_016860308.1:p.Ser34462=
XM_017004820.1:c.98784A>C (TTN) XP_016860309.1:p.Ser32928=
XM_017004821.1:c.98781A>C (TTN) XP_016860310.1:p.Ser32927=
XM_017004822.1:c.95823A>C (TTN) XP_016860311.1:p.Ser31941=
XM_017004823.1:c.77439A>C (TTN) XP_016860312.1:p.Ser25813=
XM_024453094.1:c.98934A>C (TTN) XP_024308862.1:p.Ser32978=
XM_024453095.1:c.98931A>C (TTN) XP_024308863.1:p.Ser32977=
XM_024453096.1:c.98364A>C (TTN) XP_024308864.1:p.Ser32788=
XM_024453097.1:c.95706A>C (TTN) XP_024308865.1:p.Ser31902=
XM_024453098.1:c.95625A>C (TTN) XP_024308866.1:p.Ser31875=
XM_024453099.1:c.77388A>C (TTN) XP_024308867.1:p.Ser25796=
XM_024453100.1:c.67242A>C (TTN) XP_024308868.1:p.Ser22414=