Canonical Allele Identifier: CA430235653

Linked Data

MyVariant Identifiers: chr2:g.179395367T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530640T>C , CM000664.2:g.178530640T>C GRCh38
NC_000002.11:g.179395367T>C , CM000664.1:g.179395367T>C GRCh37
NC_000002.10:g.179103613T>C NCBI36
NG_011618.3:g.305163A>G , LRG_391:g.305163A>G
NG_051363.1:g.12814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98271A>G (TTN) ENSP00000343764.6:p.Lys32757=
ENST00000342175.11:c.79356A>G (TTN) ENSP00000340554.6:p.Lys26452=
ENST00000359218.10:c.79155A>G (TTN) ENSP00000352154.5:p.Lys26385=
ENST00000342175.10:c.79356A>G (TTN) ENSP00000340554.6:p.Lys26452=
ENST00000342992.10:c.98271A>G (TTN) ENSP00000343764.6:p.Lys32757=
ENST00000359218.9:c.79155A>G (TTN) ENSP00000352154.5:p.Lys26385=
ENST00000460472.6:c.78780A>G (TTN) ENSP00000434586.1:p.Lys26260=
ENST00000589042.5:c.105975A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35325=
ENST00000591111.5:c.101052A>G (TTN) ENSP00000465570.1:p.Lys33684=
ENST00000615779.4:c.101052A>G (TTN) ENSP00000483597.1:p.Lys33684=
NM_001256850.1:c.101052A>G (TTN) NP_001243779.1:p.Lys33684=
NM_001267550.2:c.105975A>G (TTN) MANE Select NP_001254479.2:p.Lys35325=
NM_003319.4:c.78780A>G (TTN) NP_003310.4:p.Lys26260=
NM_133378.4:c.98271A>G (TTN) NP_596869.4:p.Lys32757=
NM_133432.3:c.79155A>G (TTN) NP_597676.3:p.Lys26385=
NM_133437.4:c.79356A>G (TTN) NP_597681.4:p.Lys26452=
NR_038271.1:n.446+7004T>C (TTN-AS1)
NR_038272.1:n.220-5092T>C (TTN-AS1)
XM_011511729.1:c.105072A>G (TTN) XP_011510031.1:p.Lys35024=
XM_011511730.1:c.78966A>G (TTN) XP_011510032.1:p.Lys26322=
XM_011511731.1:c.78825A>G (TTN) XP_011510033.1:p.Lys26275=
XM_017004819.1:c.104868A>G (TTN) XP_016860308.1:p.Lys34956=
XM_017004820.1:c.100266A>G (TTN) XP_016860309.1:p.Lys33422=
XM_017004821.1:c.100263A>G (TTN) XP_016860310.1:p.Lys33421=
XM_017004822.1:c.97305A>G (TTN) XP_016860311.1:p.Lys32435=
XM_017004823.1:c.78921A>G (TTN) XP_016860312.1:p.Lys26307=
XM_024453094.1:c.100416A>G (TTN) XP_024308862.1:p.Lys33472=
XM_024453095.1:c.100413A>G (TTN) XP_024308863.1:p.Lys33471=
XM_024453096.1:c.99846A>G (TTN) XP_024308864.1:p.Lys33282=
XM_024453097.1:c.97188A>G (TTN) XP_024308865.1:p.Lys32396=
XM_024453098.1:c.97107A>G (TTN) XP_024308866.1:p.Lys32369=
XM_024453099.1:c.78870A>G (TTN) XP_024308867.1:p.Lys26290=
XM_024453100.1:c.68724A>G (TTN) XP_024308868.1:p.Lys22908=