Canonical Allele Identifier: CA430235872

Linked Data

MyVariant Identifiers: chr2:g.179396837T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532110T>C , CM000664.2:g.178532110T>C GRCh38
NC_000002.11:g.179396837T>C , CM000664.1:g.179396837T>C GRCh37
NC_000002.10:g.179105083T>C NCBI36
NG_011618.3:g.303693A>G , LRG_391:g.303693A>G
NG_051363.1:g.14284T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96801A>G (TTN) ENSP00000343764.6:p.Arg32267=
ENST00000342175.11:c.77886A>G (TTN) ENSP00000340554.6:p.Arg25962=
ENST00000359218.10:c.77685A>G (TTN) ENSP00000352154.5:p.Arg25895=
ENST00000342175.10:c.77886A>G (TTN) ENSP00000340554.6:p.Arg25962=
ENST00000342992.10:c.96801A>G (TTN) ENSP00000343764.6:p.Arg32267=
ENST00000359218.9:c.77685A>G (TTN) ENSP00000352154.5:p.Arg25895=
ENST00000460472.6:c.77310A>G (TTN) ENSP00000434586.1:p.Arg25770=
ENST00000589042.5:c.104505A>G (TTN) MANE Select ENSP00000467141.1:p.Arg34835=
ENST00000591111.5:c.99582A>G (TTN) ENSP00000465570.1:p.Arg33194=
ENST00000615779.4:c.99582A>G (TTN) ENSP00000483597.1:p.Arg33194=
NM_001256850.1:c.99582A>G (TTN) NP_001243779.1:p.Arg33194=
NM_001267550.2:c.104505A>G (TTN) MANE Select NP_001254479.2:p.Arg34835=
NM_003319.4:c.77310A>G (TTN) NP_003310.4:p.Arg25770=
NM_133378.4:c.96801A>G (TTN) NP_596869.4:p.Arg32267=
NM_133432.3:c.77685A>G (TTN) NP_597676.3:p.Arg25895=
NM_133437.4:c.77886A>G (TTN) NP_597681.4:p.Arg25962=
NR_038271.1:n.446+8474T>C (TTN-AS1)
NR_038272.1:n.220-3622T>C (TTN-AS1)
XM_011511729.1:c.103602A>G (TTN) XP_011510031.1:p.Arg34534=
XM_011511730.1:c.77496A>G (TTN) XP_011510032.1:p.Arg25832=
XM_011511731.1:c.77355A>G (TTN) XP_011510033.1:p.Arg25785=
XM_017004819.1:c.103398A>G (TTN) XP_016860308.1:p.Arg34466=
XM_017004820.1:c.98796A>G (TTN) XP_016860309.1:p.Arg32932=
XM_017004821.1:c.98793A>G (TTN) XP_016860310.1:p.Arg32931=
XM_017004822.1:c.95835A>G (TTN) XP_016860311.1:p.Arg31945=
XM_017004823.1:c.77451A>G (TTN) XP_016860312.1:p.Arg25817=
XM_024453094.1:c.98946A>G (TTN) XP_024308862.1:p.Arg32982=
XM_024453095.1:c.98943A>G (TTN) XP_024308863.1:p.Arg32981=
XM_024453096.1:c.98376A>G (TTN) XP_024308864.1:p.Arg32792=
XM_024453097.1:c.95718A>G (TTN) XP_024308865.1:p.Arg31906=
XM_024453098.1:c.95637A>G (TTN) XP_024308866.1:p.Arg31879=
XM_024453099.1:c.77400A>G (TTN) XP_024308867.1:p.Arg25800=
XM_024453100.1:c.67254A>G (TTN) XP_024308868.1:p.Arg22418=