Canonical Allele Identifier: CA242901

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 196097
• ClinVar RCV Id: RCV000176838 ; RCV001467250
• dbSNP Id: rs794727458
• gnomAD v4: 2-178556906-A-G
• MyVariant Identifiers: chr2:g.179421633A>G (hg19) ; chr2:g.178556906A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178556906A>G , CM000664.2:g.178556906A>G	GRCh38
NC_000002.11:g.179421633A>G , CM000664.1:g.179421633A>G	GRCh37
NC_000002.10:g.179129879A>G	NCBI36
NG_011618.3:g.278897T>C , LRG_391:g.278897T>C
NG_051363.1:g.39080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80544T>C (TTN)	ENSP00000343764.6:p.Val26848=
ENST00000342175.11:c.61629T>C (TTN)	ENSP00000340554.6:p.Val20543=
ENST00000359218.10:c.61428T>C (TTN)	ENSP00000352154.5:p.Val20476=
ENST00000342175.10:c.61629T>C (TTN)	ENSP00000340554.6:p.Val20543=
ENST00000342992.10:c.80544T>C (TTN)	ENSP00000343764.6:p.Val26848=
ENST00000359218.9:c.61428T>C (TTN)	ENSP00000352154.5:p.Val20476=
ENST00000460472.6:c.61053T>C (TTN)	ENSP00000434586.1:p.Val20351=
ENST00000589042.5:c.88248T>C (TTN) MANE Select	ENSP00000467141.1:p.Val29416=
ENST00000591111.5:c.83325T>C (TTN)	ENSP00000465570.1:p.Val27775=
ENST00000615779.4:c.83325T>C (TTN)	ENSP00000483597.1:p.Val27775=
NM_001256850.1:c.83325T>C (TTN)	NP_001243779.1:p.Val27775=
NM_001267550.2:c.88248T>C (TTN) MANE Select	NP_001254479.2:p.Val29416=
NM_003319.4:c.61053T>C (TTN)	NP_003310.4:p.Val20351=
NM_133378.4:c.80544T>C (TTN)	NP_596869.4:p.Val26848=
NM_133432.3:c.61428T>C (TTN)	NP_597676.3:p.Val20476=
NM_133437.4:c.61629T>C (TTN)	NP_597681.4:p.Val20543=
NR_038271.1:n.447-14394A>G (TTN-AS1)
NR_038272.1:n.2043+14545A>G (TTN-AS1)
XM_011511729.1:c.87345T>C (TTN)	XP_011510031.1:p.Val29115=
XM_011511730.1:c.61239T>C (TTN)	XP_011510032.1:p.Val20413=
XM_011511731.1:c.61098T>C (TTN)	XP_011510033.1:p.Val20366=
XM_017004819.1:c.87141T>C (TTN)	XP_016860308.1:p.Val29047=
XM_017004820.1:c.82539T>C (TTN)	XP_016860309.1:p.Val27513=
XM_017004821.1:c.82536T>C (TTN)	XP_016860310.1:p.Val27512=
XM_017004822.1:c.79578T>C (TTN)	XP_016860311.1:p.Val26526=
XM_017004823.1:c.61194T>C (TTN)	XP_016860312.1:p.Val20398=
XM_024453094.1:c.82689T>C (TTN)	XP_024308862.1:p.Val27563=
XM_024453095.1:c.82686T>C (TTN)	XP_024308863.1:p.Val27562=
XM_024453096.1:c.82119T>C (TTN)	XP_024308864.1:p.Val27373=
XM_024453097.1:c.79461T>C (TTN)	XP_024308865.1:p.Val26487=
XM_024453098.1:c.79380T>C (TTN)	XP_024308866.1:p.Val26460=
XM_024453099.1:c.61143T>C (TTN)	XP_024308867.1:p.Val20381=
XM_024453100.1:c.50997T>C (TTN)	XP_024308868.1:p.Val16999=