Canonical Allele Identifier: CA430267874

Linked Data

MyVariant Identifiers: chr2:g.179457800A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593073A>G , CM000664.2:g.178593073A>G GRCh38
NC_000002.11:g.179457800A>G , CM000664.1:g.179457800A>G GRCh37
NC_000002.10:g.179166046A>G NCBI36
NG_011618.3:g.242730T>C , LRG_391:g.242730T>C
NG_051363.1:g.75247A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51342T>C (TTN) ENSP00000343764.6:p.Ser17114=
ENST00000342175.11:c.32427T>C (TTN) ENSP00000340554.6:p.Ser10809=
ENST00000359218.10:c.32226T>C (TTN) ENSP00000352154.5:p.Ser10742=
ENST00000342175.10:c.32427T>C (TTN) ENSP00000340554.6:p.Ser10809=
ENST00000342992.10:c.51342T>C (TTN) ENSP00000343764.6:p.Ser17114=
ENST00000359218.9:c.32226T>C (TTN) ENSP00000352154.5:p.Ser10742=
ENST00000460472.6:c.31851T>C (TTN) ENSP00000434586.1:p.Ser10617=
ENST00000589042.5:c.59046T>C (TTN) MANE Select ENSP00000467141.1:p.Ser19682=
ENST00000591111.5:c.54123T>C (TTN) ENSP00000465570.1:p.Ser18041=
ENST00000615779.4:c.54123T>C (TTN) ENSP00000483597.1:p.Ser18041=
NM_001256850.1:c.54123T>C (TTN) NP_001243779.1:p.Ser18041=
NM_001267550.2:c.59046T>C (TTN) MANE Select NP_001254479.2:p.Ser19682=
NM_003319.4:c.31851T>C (TTN) NP_003310.4:p.Ser10617=
NM_133378.4:c.51342T>C (TTN) NP_596869.4:p.Ser17114=
NM_133432.3:c.32226T>C (TTN) NP_597676.3:p.Ser10742=
NM_133437.4:c.32427T>C (TTN) NP_597681.4:p.Ser10809=
NR_038271.1:n.597-4523A>G (TTN-AS1)
NR_038272.1:n.3364+1759A>G (TTN-AS1)
XM_011511729.1:c.58143T>C (TTN) XP_011510031.1:p.Ser19381=
XM_011511730.1:c.32037T>C (TTN) XP_011510032.1:p.Ser10679=
XM_011511731.1:c.31896T>C (TTN) XP_011510033.1:p.Ser10632=
XM_017004819.1:c.57939T>C (TTN) XP_016860308.1:p.Ser19313=
XM_017004820.1:c.53337T>C (TTN) XP_016860309.1:p.Ser17779=
XM_017004821.1:c.53334T>C (TTN) XP_016860310.1:p.Ser17778=
XM_017004822.1:c.50376T>C (TTN) XP_016860311.1:p.Ser16792=
XM_017004823.1:c.31992T>C (TTN) XP_016860312.1:p.Ser10664=
XM_024453094.1:c.53487T>C (TTN) XP_024308862.1:p.Ser17829=
XM_024453095.1:c.53484T>C (TTN) XP_024308863.1:p.Ser17828=
XM_024453096.1:c.52917T>C (TTN) XP_024308864.1:p.Ser17639=
XM_024453097.1:c.50259T>C (TTN) XP_024308865.1:p.Ser16753=
XM_024453098.1:c.50178T>C (TTN) XP_024308866.1:p.Ser16726=
XM_024453099.1:c.31941T>C (TTN) XP_024308867.1:p.Ser10647=
XM_024453100.1:c.21795T>C (TTN) XP_024308868.1:p.Ser7265=