Canonical Allele Identifier: CA309361

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202422
• ClinVar RCV Id: RCV000184279 ; RCV001379937 ; RCV002354498
• dbSNP Id: rs794729299
• gnomAD v4: 2-178557511-G-A
• MyVariant Identifiers: chr2:g.179422238G>A (hg19) ; chr2:g.178557511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557511G>A , CM000664.2:g.178557511G>A	GRCh38
NC_000002.11:g.179422238G>A , CM000664.1:g.179422238G>A	GRCh37
NC_000002.10:g.179130484G>A	NCBI36
NG_011618.3:g.278292C>T , LRG_391:g.278292C>T
NG_051363.1:g.39685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80047C>T (TTN)	ENSP00000343764.6:p.Arg26683Ter
ENST00000342175.11:c.61132C>T (TTN)	ENSP00000340554.6:p.Arg20378Ter
ENST00000359218.10:c.60931C>T (TTN)	ENSP00000352154.5:p.Arg20311Ter
ENST00000342175.10:c.61132C>T (TTN)	ENSP00000340554.6:p.Arg20378Ter
ENST00000342992.10:c.80047C>T (TTN)	ENSP00000343764.6:p.Arg26683Ter
ENST00000359218.9:c.60931C>T (TTN)	ENSP00000352154.5:p.Arg20311Ter
ENST00000460472.6:c.60556C>T (TTN)	ENSP00000434586.1:p.Arg20186Ter
ENST00000589042.5:c.87751C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg29251Ter
ENST00000591111.5:c.82828C>T (TTN)	ENSP00000465570.1:p.Arg27610Ter
ENST00000615779.4:c.82828C>T (TTN)	ENSP00000483597.1:p.Arg27610Ter
NM_001256850.1:c.82828C>T (TTN)	NP_001243779.1:p.Arg27610Ter
NM_001267550.2:c.87751C>T (TTN) MANE Select	NP_001254479.2:p.Arg29251Ter
NM_003319.4:c.60556C>T (TTN)	NP_003310.4:p.Arg20186Ter
NM_133378.4:c.80047C>T (TTN)	NP_596869.4:p.Arg26683Ter
NM_133432.3:c.60931C>T (TTN)	NP_597676.3:p.Arg20311Ter
NM_133437.4:c.61132C>T (TTN)	NP_597681.4:p.Arg20378Ter
NR_038271.1:n.447-13789G>A (TTN-AS1)
NR_038272.1:n.2043+15150G>A (TTN-AS1)
XM_011511729.1:c.86848C>T (TTN)	XP_011510031.1:p.Arg28950Ter
XM_011511730.1:c.60742C>T (TTN)	XP_011510032.1:p.Arg20248Ter
XM_011511731.1:c.60601C>T (TTN)	XP_011510033.1:p.Arg20201Ter
XM_017004819.1:c.86644C>T (TTN)	XP_016860308.1:p.Arg28882Ter
XM_017004820.1:c.82042C>T (TTN)	XP_016860309.1:p.Arg27348Ter
XM_017004821.1:c.82039C>T (TTN)	XP_016860310.1:p.Arg27347Ter
XM_017004822.1:c.79081C>T (TTN)	XP_016860311.1:p.Arg26361Ter
XM_017004823.1:c.60697C>T (TTN)	XP_016860312.1:p.Arg20233Ter
XM_024453094.1:c.82192C>T (TTN)	XP_024308862.1:p.Arg27398Ter
XM_024453095.1:c.82189C>T (TTN)	XP_024308863.1:p.Arg27397Ter
XM_024453096.1:c.81622C>T (TTN)	XP_024308864.1:p.Arg27208Ter
XM_024453097.1:c.78964C>T (TTN)	XP_024308865.1:p.Arg26322Ter
XM_024453098.1:c.78883C>T (TTN)	XP_024308866.1:p.Arg26295Ter
XM_024453099.1:c.60646C>T (TTN)	XP_024308867.1:p.Arg20216Ter
XM_024453100.1:c.50500C>T (TTN)	XP_024308868.1:p.Arg16834Ter