Canonical Allele Identifier: CA430254028

Linked Data

MyVariant Identifiers: chr2:g.179433732A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569005A>G , CM000664.2:g.178569005A>G GRCh38
NC_000002.11:g.179433732A>G , CM000664.1:g.179433732A>G GRCh37
NC_000002.10:g.179141978A>G NCBI36
NG_011618.3:g.266798T>C , LRG_391:g.266798T>C
NG_051363.1:g.51179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69423T>C (TTN) ENSP00000343764.6:p.Asp23141=
ENST00000342175.11:c.50508T>C (TTN) ENSP00000340554.6:p.Asp16836=
ENST00000359218.10:c.50307T>C (TTN) ENSP00000352154.5:p.Asp16769=
ENST00000342175.10:c.50508T>C (TTN) ENSP00000340554.6:p.Asp16836=
ENST00000342992.10:c.69423T>C (TTN) ENSP00000343764.6:p.Asp23141=
ENST00000359218.9:c.50307T>C (TTN) ENSP00000352154.5:p.Asp16769=
ENST00000460472.6:c.49932T>C (TTN) ENSP00000434586.1:p.Asp16644=
ENST00000589042.5:c.77127T>C (TTN) MANE Select ENSP00000467141.1:p.Asp25709=
ENST00000591111.5:c.72204T>C (TTN) ENSP00000465570.1:p.Asp24068=
ENST00000615779.4:c.72204T>C (TTN) ENSP00000483597.1:p.Asp24068=
NM_001256850.1:c.72204T>C (TTN) NP_001243779.1:p.Asp24068=
NM_001267550.2:c.77127T>C (TTN) MANE Select NP_001254479.2:p.Asp25709=
NM_003319.4:c.49932T>C (TTN) NP_003310.4:p.Asp16644=
NM_133378.4:c.69423T>C (TTN) NP_596869.4:p.Asp23141=
NM_133432.3:c.50307T>C (TTN) NP_597676.3:p.Asp16769=
NM_133437.4:c.50508T>C (TTN) NP_597681.4:p.Asp16836=
NR_038271.1:n.447-2295A>G (TTN-AS1)
NR_038272.1:n.2044-13567A>G (TTN-AS1)
XM_011511729.1:c.76224T>C (TTN) XP_011510031.1:p.Asp25408=
XM_011511730.1:c.50118T>C (TTN) XP_011510032.1:p.Asp16706=
XM_011511731.1:c.49977T>C (TTN) XP_011510033.1:p.Asp16659=
XM_017004819.1:c.76020T>C (TTN) XP_016860308.1:p.Asp25340=
XM_017004820.1:c.71418T>C (TTN) XP_016860309.1:p.Asp23806=
XM_017004821.1:c.71415T>C (TTN) XP_016860310.1:p.Asp23805=
XM_017004822.1:c.68457T>C (TTN) XP_016860311.1:p.Asp22819=
XM_017004823.1:c.50073T>C (TTN) XP_016860312.1:p.Asp16691=
XM_024453094.1:c.71568T>C (TTN) XP_024308862.1:p.Asp23856=
XM_024453095.1:c.71565T>C (TTN) XP_024308863.1:p.Asp23855=
XM_024453096.1:c.70998T>C (TTN) XP_024308864.1:p.Asp23666=
XM_024453097.1:c.68340T>C (TTN) XP_024308865.1:p.Asp22780=
XM_024453098.1:c.68259T>C (TTN) XP_024308866.1:p.Asp22753=
XM_024453099.1:c.50022T>C (TTN) XP_024308867.1:p.Asp16674=
XM_024453100.1:c.39876T>C (TTN) XP_024308868.1:p.Asp13292=