Canonical Allele Identifier: CA1985393

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535697
• ClinVar RCV Id: RCV000643835 ; RCV003303037
• dbSNP Id: rs144094650
• ExAC: 2:179396750 C / A
• gnomAD v2: 2-179396750-C-A
• gnomAD v3: 2-178532023-C-A
• gnomAD v4: 2-178532023-C-A
• MyVariant Identifiers: chr2:g.179396750C>A (hg19) ; chr2:g.178532023C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532023C>A , CM000664.2:g.178532023C>A	GRCh38
NC_000002.11:g.179396750C>A , CM000664.1:g.179396750C>A	GRCh37
NC_000002.10:g.179104996C>A	NCBI36
NG_011618.3:g.303780G>T , LRG_391:g.303780G>T
NG_051363.1:g.14197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96888G>T (TTN)	ENSP00000343764.6:p.Pro32296=
ENST00000342175.11:c.77973G>T (TTN)	ENSP00000340554.6:p.Pro25991=
ENST00000359218.10:c.77772G>T (TTN)	ENSP00000352154.5:p.Pro25924=
ENST00000342175.10:c.77973G>T (TTN)	ENSP00000340554.6:p.Pro25991=
ENST00000342992.10:c.96888G>T (TTN)	ENSP00000343764.6:p.Pro32296=
ENST00000359218.9:c.77772G>T (TTN)	ENSP00000352154.5:p.Pro25924=
ENST00000460472.6:c.77397G>T (TTN)	ENSP00000434586.1:p.Pro25799=
ENST00000589042.5:c.104592G>T (TTN) MANE Select	ENSP00000467141.1:p.Pro34864=
ENST00000591111.5:c.99669G>T (TTN)	ENSP00000465570.1:p.Pro33223=
ENST00000615779.4:c.99669G>T (TTN)	ENSP00000483597.1:p.Pro33223=
NM_001256850.1:c.99669G>T (TTN)	NP_001243779.1:p.Pro33223=
NM_001267550.2:c.104592G>T (TTN) MANE Select	NP_001254479.2:p.Pro34864=
NM_003319.4:c.77397G>T (TTN)	NP_003310.4:p.Pro25799=
NM_133378.4:c.96888G>T (TTN)	NP_596869.4:p.Pro32296=
NM_133432.3:c.77772G>T (TTN)	NP_597676.3:p.Pro25924=
NM_133437.4:c.77973G>T (TTN)	NP_597681.4:p.Pro25991=
NR_038271.1:n.446+8387C>A (TTN-AS1)
NR_038272.1:n.220-3709C>A (TTN-AS1)
XM_011511729.1:c.103689G>T (TTN)	XP_011510031.1:p.Pro34563=
XM_011511730.1:c.77583G>T (TTN)	XP_011510032.1:p.Pro25861=
XM_011511731.1:c.77442G>T (TTN)	XP_011510033.1:p.Pro25814=
XM_017004819.1:c.103485G>T (TTN)	XP_016860308.1:p.Pro34495=
XM_017004820.1:c.98883G>T (TTN)	XP_016860309.1:p.Pro32961=
XM_017004821.1:c.98880G>T (TTN)	XP_016860310.1:p.Pro32960=
XM_017004822.1:c.95922G>T (TTN)	XP_016860311.1:p.Pro31974=
XM_017004823.1:c.77538G>T (TTN)	XP_016860312.1:p.Pro25846=
XM_024453094.1:c.99033G>T (TTN)	XP_024308862.1:p.Pro33011=
XM_024453095.1:c.99030G>T (TTN)	XP_024308863.1:p.Pro33010=
XM_024453096.1:c.98463G>T (TTN)	XP_024308864.1:p.Pro32821=
XM_024453097.1:c.95805G>T (TTN)	XP_024308865.1:p.Pro31935=
XM_024453098.1:c.95724G>T (TTN)	XP_024308866.1:p.Pro31908=
XM_024453099.1:c.77487G>T (TTN)	XP_024308867.1:p.Pro25829=
XM_024453100.1:c.67341G>T (TTN)	XP_024308868.1:p.Pro22447=