Canonical Allele Identifier: CA309349

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202418
• ClinVar RCV Id: RCV000184274 ; RCV003765148
• dbSNP Id: rs794729295
• MyVariant Identifiers: chr2:g.179427206C>A (hg19) ; chr2:g.178562479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562479C>A , CM000664.2:g.178562479C>A	GRCh38
NC_000002.11:g.179427206C>A , CM000664.1:g.179427206C>A	GRCh37
NC_000002.10:g.179135452C>A	NCBI36
NG_011618.3:g.273324G>T , LRG_391:g.273324G>T
NG_051363.1:g.44653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.75949G>T (TTN)	ENSP00000343764.6:p.Glu25317Ter
ENST00000342175.11:c.57034G>T (TTN)	ENSP00000340554.6:p.Glu19012Ter
ENST00000359218.10:c.56833G>T (TTN)	ENSP00000352154.5:p.Glu18945Ter
ENST00000342175.10:c.57034G>T (TTN)	ENSP00000340554.6:p.Glu19012Ter
ENST00000342992.10:c.75949G>T (TTN)	ENSP00000343764.6:p.Glu25317Ter
ENST00000359218.9:c.56833G>T (TTN)	ENSP00000352154.5:p.Glu18945Ter
ENST00000460472.6:c.56458G>T (TTN)	ENSP00000434586.1:p.Glu18820Ter
ENST00000589042.5:c.83653G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu27885Ter
ENST00000591111.5:c.78730G>T (TTN)	ENSP00000465570.1:p.Glu26244Ter
ENST00000615779.4:c.78730G>T (TTN)	ENSP00000483597.1:p.Glu26244Ter
NM_001256850.1:c.78730G>T (TTN)	NP_001243779.1:p.Glu26244Ter
NM_001267550.2:c.83653G>T (TTN) MANE Select	NP_001254479.2:p.Glu27885Ter
NM_003319.4:c.56458G>T (TTN)	NP_003310.4:p.Glu18820Ter
NM_133378.4:c.75949G>T (TTN)	NP_596869.4:p.Glu25317Ter
NM_133432.3:c.56833G>T (TTN)	NP_597676.3:p.Glu18945Ter
NM_133437.4:c.57034G>T (TTN)	NP_597681.4:p.Glu19012Ter
NR_038271.1:n.447-8821C>A (TTN-AS1)
NR_038272.1:n.2044-20093C>A (TTN-AS1)
XM_011511729.1:c.82750G>T (TTN)	XP_011510031.1:p.Glu27584Ter
XM_011511730.1:c.56644G>T (TTN)	XP_011510032.1:p.Glu18882Ter
XM_011511731.1:c.56503G>T (TTN)	XP_011510033.1:p.Glu18835Ter
XM_017004819.1:c.82546G>T (TTN)	XP_016860308.1:p.Glu27516Ter
XM_017004820.1:c.77944G>T (TTN)	XP_016860309.1:p.Glu25982Ter
XM_017004821.1:c.77941G>T (TTN)	XP_016860310.1:p.Glu25981Ter
XM_017004822.1:c.74983G>T (TTN)	XP_016860311.1:p.Glu24995Ter
XM_017004823.1:c.56599G>T (TTN)	XP_016860312.1:p.Glu18867Ter
XM_024453094.1:c.78094G>T (TTN)	XP_024308862.1:p.Glu26032Ter
XM_024453095.1:c.78091G>T (TTN)	XP_024308863.1:p.Glu26031Ter
XM_024453096.1:c.77524G>T (TTN)	XP_024308864.1:p.Glu25842Ter
XM_024453097.1:c.74866G>T (TTN)	XP_024308865.1:p.Glu24956Ter
XM_024453098.1:c.74785G>T (TTN)	XP_024308866.1:p.Glu24929Ter
XM_024453099.1:c.56548G>T (TTN)	XP_024308867.1:p.Glu18850Ter
XM_024453100.1:c.46402G>T (TTN)	XP_024308868.1:p.Glu15468Ter