Canonical Allele Identifier: CA430267307

Linked Data

MyVariant Identifiers: chr2:g.179457512T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592785T>C , CM000664.2:g.178592785T>C GRCh38
NC_000002.11:g.179457512T>C , CM000664.1:g.179457512T>C GRCh37
NC_000002.10:g.179165758T>C NCBI36
NG_011618.3:g.243018A>G , LRG_391:g.243018A>G
NG_051363.1:g.74959T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51630A>G (TTN) ENSP00000343764.6:p.Lys17210=
ENST00000342175.11:c.32715A>G (TTN) ENSP00000340554.6:p.Lys10905=
ENST00000359218.10:c.32514A>G (TTN) ENSP00000352154.5:p.Lys10838=
ENST00000342175.10:c.32715A>G (TTN) ENSP00000340554.6:p.Lys10905=
ENST00000342992.10:c.51630A>G (TTN) ENSP00000343764.6:p.Lys17210=
ENST00000359218.9:c.32514A>G (TTN) ENSP00000352154.5:p.Lys10838=
ENST00000460472.6:c.32139A>G (TTN) ENSP00000434586.1:p.Lys10713=
ENST00000589042.5:c.59334A>G (TTN) MANE Select ENSP00000467141.1:p.Lys19778=
ENST00000591111.5:c.54411A>G (TTN) ENSP00000465570.1:p.Lys18137=
ENST00000615779.4:c.54411A>G (TTN) ENSP00000483597.1:p.Lys18137=
NM_001256850.1:c.54411A>G (TTN) NP_001243779.1:p.Lys18137=
NM_001267550.2:c.59334A>G (TTN) MANE Select NP_001254479.2:p.Lys19778=
NM_003319.4:c.32139A>G (TTN) NP_003310.4:p.Lys10713=
NM_133378.4:c.51630A>G (TTN) NP_596869.4:p.Lys17210=
NM_133432.3:c.32514A>G (TTN) NP_597676.3:p.Lys10838=
NM_133437.4:c.32715A>G (TTN) NP_597681.4:p.Lys10905=
NR_038271.1:n.597-4811T>C (TTN-AS1)
NR_038272.1:n.3364+1471T>C (TTN-AS1)
XM_011511729.1:c.58431A>G (TTN) XP_011510031.1:p.Lys19477=
XM_011511730.1:c.32325A>G (TTN) XP_011510032.1:p.Lys10775=
XM_011511731.1:c.32184A>G (TTN) XP_011510033.1:p.Lys10728=
XM_017004819.1:c.58227A>G (TTN) XP_016860308.1:p.Lys19409=
XM_017004820.1:c.53625A>G (TTN) XP_016860309.1:p.Lys17875=
XM_017004821.1:c.53622A>G (TTN) XP_016860310.1:p.Lys17874=
XM_017004822.1:c.50664A>G (TTN) XP_016860311.1:p.Lys16888=
XM_017004823.1:c.32280A>G (TTN) XP_016860312.1:p.Lys10760=
XM_024453094.1:c.53775A>G (TTN) XP_024308862.1:p.Lys17925=
XM_024453095.1:c.53772A>G (TTN) XP_024308863.1:p.Lys17924=
XM_024453096.1:c.53205A>G (TTN) XP_024308864.1:p.Lys17735=
XM_024453097.1:c.50547A>G (TTN) XP_024308865.1:p.Lys16849=
XM_024453098.1:c.50466A>G (TTN) XP_024308866.1:p.Lys16822=
XM_024453099.1:c.32229A>G (TTN) XP_024308867.1:p.Lys10743=
XM_024453100.1:c.22083A>G (TTN) XP_024308868.1:p.Lys7361=