Canonical Allele Identifier: CA430266353

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591005-A-G
• MyVariant Identifiers: chr2:g.179455732A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591005A>G , CM000664.2:g.178591005A>G	GRCh38
NC_000002.11:g.179455732A>G , CM000664.1:g.179455732A>G	GRCh37
NC_000002.10:g.179163978A>G	NCBI36
NG_011618.3:g.244798T>C , LRG_391:g.244798T>C
NG_051363.1:g.73179A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53016T>C (TTN)	ENSP00000343764.6:p.Cys17672=
ENST00000342175.11:c.34101T>C (TTN)	ENSP00000340554.6:p.Cys11367=
ENST00000359218.10:c.33900T>C (TTN)	ENSP00000352154.5:p.Cys11300=
ENST00000342175.10:c.34101T>C (TTN)	ENSP00000340554.6:p.Cys11367=
ENST00000342992.10:c.53016T>C (TTN)	ENSP00000343764.6:p.Cys17672=
ENST00000359218.9:c.33900T>C (TTN)	ENSP00000352154.5:p.Cys11300=
ENST00000460472.6:c.33525T>C (TTN)	ENSP00000434586.1:p.Cys11175=
ENST00000589042.5:c.60720T>C (TTN) MANE Select	ENSP00000467141.1:p.Cys20240=
ENST00000591111.5:c.55797T>C (TTN)	ENSP00000465570.1:p.Cys18599=
ENST00000615779.4:c.55797T>C (TTN)	ENSP00000483597.1:p.Cys18599=
NM_001256850.1:c.55797T>C (TTN)	NP_001243779.1:p.Cys18599=
NM_001267550.2:c.60720T>C (TTN) MANE Select	NP_001254479.2:p.Cys20240=
NM_003319.4:c.33525T>C (TTN)	NP_003310.4:p.Cys11175=
NM_133378.4:c.53016T>C (TTN)	NP_596869.4:p.Cys17672=
NM_133432.3:c.33900T>C (TTN)	NP_597676.3:p.Cys11300=
NM_133437.4:c.34101T>C (TTN)	NP_597681.4:p.Cys11367=
NR_038271.1:n.597-6591A>G (TTN-AS1)
NR_038272.1:n.3189-134A>G (TTN-AS1)
XM_011511729.1:c.59817T>C (TTN)	XP_011510031.1:p.Cys19939=
XM_011511730.1:c.33711T>C (TTN)	XP_011510032.1:p.Cys11237=
XM_011511731.1:c.33570T>C (TTN)	XP_011510033.1:p.Cys11190=
XM_017004819.1:c.59613T>C (TTN)	XP_016860308.1:p.Cys19871=
XM_017004820.1:c.55011T>C (TTN)	XP_016860309.1:p.Cys18337=
XM_017004821.1:c.55008T>C (TTN)	XP_016860310.1:p.Cys18336=
XM_017004822.1:c.52050T>C (TTN)	XP_016860311.1:p.Cys17350=
XM_017004823.1:c.33666T>C (TTN)	XP_016860312.1:p.Cys11222=
XM_024453094.1:c.55161T>C (TTN)	XP_024308862.1:p.Cys18387=
XM_024453095.1:c.55158T>C (TTN)	XP_024308863.1:p.Cys18386=
XM_024453096.1:c.54591T>C (TTN)	XP_024308864.1:p.Cys18197=
XM_024453097.1:c.51933T>C (TTN)	XP_024308865.1:p.Cys17311=
XM_024453098.1:c.51852T>C (TTN)	XP_024308866.1:p.Cys17284=
XM_024453099.1:c.33615T>C (TTN)	XP_024308867.1:p.Cys11205=
XM_024453100.1:c.23469T>C (TTN)	XP_024308868.1:p.Cys7823=