Canonical Allele Identifier: CA430252707

Linked Data

MyVariant Identifiers: chr2:g.179432112A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567385A>C , CM000664.2:g.178567385A>C GRCh38
NC_000002.11:g.179432112A>C , CM000664.1:g.179432112A>C GRCh37
NC_000002.10:g.179140358A>C NCBI36
NG_011618.3:g.268418T>G , LRG_391:g.268418T>G
NG_051363.1:g.49559A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71043T>G (TTN) ENSP00000343764.6:p.Ala23681=
ENST00000342175.11:c.52128T>G (TTN) ENSP00000340554.6:p.Ala17376=
ENST00000359218.10:c.51927T>G (TTN) ENSP00000352154.5:p.Ala17309=
ENST00000342175.10:c.52128T>G (TTN) ENSP00000340554.6:p.Ala17376=
ENST00000342992.10:c.71043T>G (TTN) ENSP00000343764.6:p.Ala23681=
ENST00000359218.9:c.51927T>G (TTN) ENSP00000352154.5:p.Ala17309=
ENST00000460472.6:c.51552T>G (TTN) ENSP00000434586.1:p.Ala17184=
ENST00000589042.5:c.78747T>G (TTN) MANE Select ENSP00000467141.1:p.Ala26249=
ENST00000591111.5:c.73824T>G (TTN) ENSP00000465570.1:p.Ala24608=
ENST00000615779.4:c.73824T>G (TTN) ENSP00000483597.1:p.Ala24608=
NM_001256850.1:c.73824T>G (TTN) NP_001243779.1:p.Ala24608=
NM_001267550.2:c.78747T>G (TTN) MANE Select NP_001254479.2:p.Ala26249=
NM_003319.4:c.51552T>G (TTN) NP_003310.4:p.Ala17184=
NM_133378.4:c.71043T>G (TTN) NP_596869.4:p.Ala23681=
NM_133432.3:c.51927T>G (TTN) NP_597676.3:p.Ala17309=
NM_133437.4:c.52128T>G (TTN) NP_597681.4:p.Ala17376=
NR_038271.1:n.447-3915A>C (TTN-AS1)
NR_038272.1:n.2044-15187A>C (TTN-AS1)
XM_011511729.1:c.77844T>G (TTN) XP_011510031.1:p.Ala25948=
XM_011511730.1:c.51738T>G (TTN) XP_011510032.1:p.Ala17246=
XM_011511731.1:c.51597T>G (TTN) XP_011510033.1:p.Ala17199=
XM_017004819.1:c.77640T>G (TTN) XP_016860308.1:p.Ala25880=
XM_017004820.1:c.73038T>G (TTN) XP_016860309.1:p.Ala24346=
XM_017004821.1:c.73035T>G (TTN) XP_016860310.1:p.Ala24345=
XM_017004822.1:c.70077T>G (TTN) XP_016860311.1:p.Ala23359=
XM_017004823.1:c.51693T>G (TTN) XP_016860312.1:p.Ala17231=
XM_024453094.1:c.73188T>G (TTN) XP_024308862.1:p.Ala24396=
XM_024453095.1:c.73185T>G (TTN) XP_024308863.1:p.Ala24395=
XM_024453096.1:c.72618T>G (TTN) XP_024308864.1:p.Ala24206=
XM_024453097.1:c.69960T>G (TTN) XP_024308865.1:p.Ala23320=
XM_024453098.1:c.69879T>G (TTN) XP_024308866.1:p.Ala23293=
XM_024453099.1:c.51642T>G (TTN) XP_024308867.1:p.Ala17214=
XM_024453100.1:c.41496T>G (TTN) XP_024308868.1:p.Ala13832=