Canonical Allele Identifier: CA430263252

Linked Data

MyVariant Identifiers: chr2:g.179449214C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584487C>G , CM000664.2:g.178584487C>G GRCh38
NC_000002.11:g.179449214C>G , CM000664.1:g.179449214C>G GRCh37
NC_000002.10:g.179157460C>G NCBI36
NG_011618.3:g.251316G>C , LRG_391:g.251316G>C
NG_051363.1:g.66661C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57360G>C (TTN) ENSP00000343764.6:p.Gly19120=
ENST00000342175.11:c.38445G>C (TTN) ENSP00000340554.6:p.Gly12815=
ENST00000359218.10:c.38244G>C (TTN) ENSP00000352154.5:p.Gly12748=
ENST00000342175.10:c.38445G>C (TTN) ENSP00000340554.6:p.Gly12815=
ENST00000342992.10:c.57360G>C (TTN) ENSP00000343764.6:p.Gly19120=
ENST00000359218.9:c.38244G>C (TTN) ENSP00000352154.5:p.Gly12748=
ENST00000460472.6:c.37869G>C (TTN) ENSP00000434586.1:p.Gly12623=
ENST00000589042.5:c.65064G>C (TTN) MANE Select ENSP00000467141.1:p.Gly21688=
ENST00000591111.5:c.60141G>C (TTN) ENSP00000465570.1:p.Gly20047=
ENST00000615779.4:c.60141G>C (TTN) ENSP00000483597.1:p.Gly20047=
NM_001256850.1:c.60141G>C (TTN) NP_001243779.1:p.Gly20047=
NM_001267550.2:c.65064G>C (TTN) MANE Select NP_001254479.2:p.Gly21688=
NM_003319.4:c.37869G>C (TTN) NP_003310.4:p.Gly12623=
NM_133378.4:c.57360G>C (TTN) NP_596869.4:p.Gly19120=
NM_133432.3:c.38244G>C (TTN) NP_597676.3:p.Gly12748=
NM_133437.4:c.38445G>C (TTN) NP_597681.4:p.Gly12815=
NR_038271.1:n.596+13038C>G (TTN-AS1)
NR_038272.1:n.2768-86C>G (TTN-AS1)
XM_011511729.1:c.64161G>C (TTN) XP_011510031.1:p.Gly21387=
XM_011511730.1:c.38055G>C (TTN) XP_011510032.1:p.Gly12685=
XM_011511731.1:c.37914G>C (TTN) XP_011510033.1:p.Gly12638=
XM_017004819.1:c.63957G>C (TTN) XP_016860308.1:p.Gly21319=
XM_017004820.1:c.59355G>C (TTN) XP_016860309.1:p.Gly19785=
XM_017004821.1:c.59352G>C (TTN) XP_016860310.1:p.Gly19784=
XM_017004822.1:c.56394G>C (TTN) XP_016860311.1:p.Gly18798=
XM_017004823.1:c.38010G>C (TTN) XP_016860312.1:p.Gly12670=
XM_024453094.1:c.59505G>C (TTN) XP_024308862.1:p.Gly19835=
XM_024453095.1:c.59502G>C (TTN) XP_024308863.1:p.Gly19834=
XM_024453096.1:c.58935G>C (TTN) XP_024308864.1:p.Gly19645=
XM_024453097.1:c.56277G>C (TTN) XP_024308865.1:p.Gly18759=
XM_024453098.1:c.56196G>C (TTN) XP_024308866.1:p.Gly18732=
XM_024453099.1:c.37959G>C (TTN) XP_024308867.1:p.Gly12653=
XM_024453100.1:c.27813G>C (TTN) XP_024308868.1:p.Gly9271=