Canonical Allele Identifier: CA430103974

Linked Data

MyVariant Identifiers: chr2:g.179416358T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551631T>A , CM000664.2:g.178551631T>A GRCh38
NC_000002.11:g.179416358T>A , CM000664.1:g.179416358T>A GRCh37
NC_000002.10:g.179124604T>A NCBI36
NG_011618.3:g.284172A>T , LRG_391:g.284172A>T
NG_051363.1:g.33805T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83565A>T (TTN) ENSP00000343764.6:p.Val27855=
ENST00000342175.11:c.64650A>T (TTN) ENSP00000340554.6:p.Val21550=
ENST00000359218.10:c.64449A>T (TTN) ENSP00000352154.5:p.Val21483=
ENST00000342175.10:c.64650A>T (TTN) ENSP00000340554.6:p.Val21550=
ENST00000342992.10:c.83565A>T (TTN) ENSP00000343764.6:p.Val27855=
ENST00000359218.9:c.64449A>T (TTN) ENSP00000352154.5:p.Val21483=
ENST00000460472.6:c.64074A>T (TTN) ENSP00000434586.1:p.Val21358=
ENST00000589042.5:c.91269A>T (TTN) MANE Select ENSP00000467141.1:p.Val30423=
ENST00000591111.5:c.86346A>T (TTN) ENSP00000465570.1:p.Val28782=
ENST00000615779.4:c.86346A>T (TTN) ENSP00000483597.1:p.Val28782=
NM_001256850.1:c.86346A>T (TTN) NP_001243779.1:p.Val28782=
NM_001267550.2:c.91269A>T (TTN) MANE Select NP_001254479.2:p.Val30423=
NM_003319.4:c.64074A>T (TTN) NP_003310.4:p.Val21358=
NM_133378.4:c.83565A>T (TTN) NP_596869.4:p.Val27855=
NM_133432.3:c.64449A>T (TTN) NP_597676.3:p.Val21483=
NM_133437.4:c.64650A>T (TTN) NP_597681.4:p.Val21550=
NR_038271.1:n.447-19669T>A (TTN-AS1)
NR_038272.1:n.2043+9270T>A (TTN-AS1)
XM_011511729.1:c.90366A>T (TTN) XP_011510031.1:p.Val30122=
XM_011511730.1:c.64260A>T (TTN) XP_011510032.1:p.Val21420=
XM_011511731.1:c.64119A>T (TTN) XP_011510033.1:p.Val21373=
XM_017004819.1:c.90162A>T (TTN) XP_016860308.1:p.Val30054=
XM_017004820.1:c.85560A>T (TTN) XP_016860309.1:p.Val28520=
XM_017004821.1:c.85557A>T (TTN) XP_016860310.1:p.Val28519=
XM_017004822.1:c.82599A>T (TTN) XP_016860311.1:p.Val27533=
XM_017004823.1:c.64215A>T (TTN) XP_016860312.1:p.Val21405=
XM_024453094.1:c.85710A>T (TTN) XP_024308862.1:p.Val28570=
XM_024453095.1:c.85707A>T (TTN) XP_024308863.1:p.Val28569=
XM_024453096.1:c.85140A>T (TTN) XP_024308864.1:p.Val28380=
XM_024453097.1:c.82482A>T (TTN) XP_024308865.1:p.Val27494=
XM_024453098.1:c.82401A>T (TTN) XP_024308866.1:p.Val27467=
XM_024453099.1:c.64164A>T (TTN) XP_024308867.1:p.Val21388=
XM_024453100.1:c.54018A>T (TTN) XP_024308868.1:p.Val18006=