Canonical Allele Identifier: CA430269363

Linked Data

MyVariant Identifiers: chr2:g.179467076A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602349A>G , CM000664.2:g.178602349A>G GRCh38
NC_000002.11:g.179467076A>G , CM000664.1:g.179467076A>G GRCh37
NC_000002.10:g.179175321A>G NCBI36
NG_011618.3:g.233454T>C , LRG_391:g.233454T>C
NG_051363.1:g.84523A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.47349T>C (TTN) ENSP00000343764.6:p.Ala15783=
ENST00000342175.11:c.28434T>C (TTN) ENSP00000340554.6:p.Ala9478=
ENST00000359218.10:c.28233T>C (TTN) ENSP00000352154.5:p.Ala9411=
ENST00000342175.10:c.28434T>C (TTN) ENSP00000340554.6:p.Ala9478=
ENST00000342992.10:c.47349T>C (TTN) ENSP00000343764.6:p.Ala15783=
ENST00000359218.9:c.28233T>C (TTN) ENSP00000352154.5:p.Ala9411=
ENST00000460472.6:c.27858T>C (TTN) ENSP00000434586.1:p.Ala9286=
ENST00000589042.5:c.55053T>C (TTN) MANE Select ENSP00000467141.1:p.Ala18351=
ENST00000591111.5:c.50130T>C (TTN) ENSP00000465570.1:p.Ala16710=
ENST00000615779.4:c.50130T>C (TTN) ENSP00000483597.1:p.Ala16710=
NM_001256850.1:c.50130T>C (TTN) NP_001243779.1:p.Ala16710=
NM_001267550.2:c.55053T>C (TTN) MANE Select NP_001254479.2:p.Ala18351=
NM_003319.4:c.27858T>C (TTN) NP_003310.4:p.Ala9286=
NM_133378.4:c.47349T>C (TTN) NP_596869.4:p.Ala15783=
NM_133432.3:c.28233T>C (TTN) NP_597676.3:p.Ala9411=
NM_133437.4:c.28434T>C (TTN) NP_597681.4:p.Ala9478=
NR_038271.1:n.682+4668A>G (TTN-AS1)
NR_038272.1:n.3917+1682A>G (TTN-AS1)
XM_011511729.1:c.54150T>C (TTN) XP_011510031.1:p.Ala18050=
XM_011511730.1:c.28044T>C (TTN) XP_011510032.1:p.Ala9348=
XM_011511731.1:c.27903T>C (TTN) XP_011510033.1:p.Ala9301=
XM_017004819.1:c.53946T>C (TTN) XP_016860308.1:p.Ala17982=
XM_017004820.1:c.49344T>C (TTN) XP_016860309.1:p.Ala16448=
XM_017004821.1:c.49341T>C (TTN) XP_016860310.1:p.Ala16447=
XM_017004822.1:c.46383T>C (TTN) XP_016860311.1:p.Ala15461=
XM_017004823.1:c.27999T>C (TTN) XP_016860312.1:p.Ala9333=
XM_024453094.1:c.49494T>C (TTN) XP_024308862.1:p.Ala16498=
XM_024453095.1:c.49491T>C (TTN) XP_024308863.1:p.Ala16497=
XM_024453096.1:c.48924T>C (TTN) XP_024308864.1:p.Ala16308=
XM_024453097.1:c.46266T>C (TTN) XP_024308865.1:p.Ala15422=
XM_024453098.1:c.46185T>C (TTN) XP_024308866.1:p.Ala15395=
XM_024453099.1:c.27948T>C (TTN) XP_024308867.1:p.Ala9316=
XM_024453100.1:c.17802T>C (TTN) XP_024308868.1:p.Ala5934=