Canonical Allele Identifier: CA430254909

Linked Data

MyVariant Identifiers: chr2:g.179435286T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570559T>C , CM000664.2:g.178570559T>C GRCh38
NC_000002.11:g.179435286T>C , CM000664.1:g.179435286T>C GRCh37
NC_000002.10:g.179143532T>C NCBI36
NG_011618.3:g.265244A>G , LRG_391:g.265244A>G
NG_051363.1:g.52733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67869A>G (TTN) ENSP00000343764.6:p.Gly22623=
ENST00000342175.11:c.48954A>G (TTN) ENSP00000340554.6:p.Gly16318=
ENST00000359218.10:c.48753A>G (TTN) ENSP00000352154.5:p.Gly16251=
ENST00000342175.10:c.48954A>G (TTN) ENSP00000340554.6:p.Gly16318=
ENST00000342992.10:c.67869A>G (TTN) ENSP00000343764.6:p.Gly22623=
ENST00000359218.9:c.48753A>G (TTN) ENSP00000352154.5:p.Gly16251=
ENST00000460472.6:c.48378A>G (TTN) ENSP00000434586.1:p.Gly16126=
ENST00000589042.5:c.75573A>G (TTN) MANE Select ENSP00000467141.1:p.Gly25191=
ENST00000591111.5:c.70650A>G (TTN) ENSP00000465570.1:p.Gly23550=
ENST00000615779.4:c.70650A>G (TTN) ENSP00000483597.1:p.Gly23550=
NM_001256850.1:c.70650A>G (TTN) NP_001243779.1:p.Gly23550=
NM_001267550.2:c.75573A>G (TTN) MANE Select NP_001254479.2:p.Gly25191=
NM_003319.4:c.48378A>G (TTN) NP_003310.4:p.Gly16126=
NM_133378.4:c.67869A>G (TTN) NP_596869.4:p.Gly22623=
NM_133432.3:c.48753A>G (TTN) NP_597676.3:p.Gly16251=
NM_133437.4:c.48954A>G (TTN) NP_597681.4:p.Gly16318=
NR_038271.1:n.447-741T>C (TTN-AS1)
NR_038272.1:n.2044-12013T>C (TTN-AS1)
XM_011511729.1:c.74670A>G (TTN) XP_011510031.1:p.Gly24890=
XM_011511730.1:c.48564A>G (TTN) XP_011510032.1:p.Gly16188=
XM_011511731.1:c.48423A>G (TTN) XP_011510033.1:p.Gly16141=
XM_017004819.1:c.74466A>G (TTN) XP_016860308.1:p.Gly24822=
XM_017004820.1:c.69864A>G (TTN) XP_016860309.1:p.Gly23288=
XM_017004821.1:c.69861A>G (TTN) XP_016860310.1:p.Gly23287=
XM_017004822.1:c.66903A>G (TTN) XP_016860311.1:p.Gly22301=
XM_017004823.1:c.48519A>G (TTN) XP_016860312.1:p.Gly16173=
XM_024453094.1:c.70014A>G (TTN) XP_024308862.1:p.Gly23338=
XM_024453095.1:c.70011A>G (TTN) XP_024308863.1:p.Gly23337=
XM_024453096.1:c.69444A>G (TTN) XP_024308864.1:p.Gly23148=
XM_024453097.1:c.66786A>G (TTN) XP_024308865.1:p.Gly22262=
XM_024453098.1:c.66705A>G (TTN) XP_024308866.1:p.Gly22235=
XM_024453099.1:c.48468A>G (TTN) XP_024308867.1:p.Gly16156=
XM_024453100.1:c.38322A>G (TTN) XP_024308868.1:p.Gly12774=