Canonical Allele Identifier: CA276022

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 208622
• ClinVar RCV Id: RCV000190634 ; RCV001237073 ; RCV002254915 ; RCV004020303
• dbSNP Id: rs771511344
• gnomAD v4: 2-178538795-T-A
• MyVariant Identifiers: chr2:g.179403522T>A (hg19) ; chr2:g.178538795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178538795T>A , CM000664.2:g.178538795T>A	GRCh38
NC_000002.11:g.179403522T>A , CM000664.1:g.179403522T>A	GRCh37
NC_000002.10:g.179111768T>A	NCBI36
NG_011618.3:g.297008A>T , LRG_391:g.297008A>T
NG_051363.1:g.20969T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91330A>T (TTN)	ENSP00000343764.6:p.Lys30444Ter
ENST00000342175.11:c.72415A>T (TTN)	ENSP00000340554.6:p.Lys24139Ter
ENST00000359218.10:c.72214A>T (TTN)	ENSP00000352154.5:p.Lys24072Ter
ENST00000342175.10:c.72415A>T (TTN)	ENSP00000340554.6:p.Lys24139Ter
ENST00000342992.10:c.91330A>T (TTN)	ENSP00000343764.6:p.Lys30444Ter
ENST00000359218.9:c.72214A>T (TTN)	ENSP00000352154.5:p.Lys24072Ter
ENST00000460472.6:c.71839A>T (TTN)	ENSP00000434586.1:p.Lys23947Ter
ENST00000589042.5:c.99034A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys33012Ter
ENST00000591111.5:c.94111A>T (TTN)	ENSP00000465570.1:p.Lys31371Ter
ENST00000615779.4:c.94111A>T (TTN)	ENSP00000483597.1:p.Lys31371Ter
NM_001256850.1:c.94111A>T (TTN)	NP_001243779.1:p.Lys31371Ter
NM_001267550.2:c.99034A>T (TTN) MANE Select	NP_001254479.2:p.Lys33012Ter
NM_003319.4:c.71839A>T (TTN)	NP_003310.4:p.Lys23947Ter
NM_133378.4:c.91330A>T (TTN)	NP_596869.4:p.Lys30444Ter
NM_133432.3:c.72214A>T (TTN)	NP_597676.3:p.Lys24072Ter
NM_133437.4:c.72415A>T (TTN)	NP_597681.4:p.Lys24139Ter
NR_038271.1:n.446+15159T>A (TTN-AS1)
NR_038272.1:n.745T>A (TTN-AS1)
XM_011511729.1:c.98131A>T (TTN)	XP_011510031.1:p.Lys32711Ter
XM_011511730.1:c.72025A>T (TTN)	XP_011510032.1:p.Lys24009Ter
XM_011511731.1:c.71884A>T (TTN)	XP_011510033.1:p.Lys23962Ter
XM_017004819.1:c.97927A>T (TTN)	XP_016860308.1:p.Lys32643Ter
XM_017004820.1:c.93325A>T (TTN)	XP_016860309.1:p.Lys31109Ter
XM_017004821.1:c.93322A>T (TTN)	XP_016860310.1:p.Lys31108Ter
XM_017004822.1:c.90364A>T (TTN)	XP_016860311.1:p.Lys30122Ter
XM_017004823.1:c.71980A>T (TTN)	XP_016860312.1:p.Lys23994Ter
XM_024453094.1:c.93475A>T (TTN)	XP_024308862.1:p.Lys31159Ter
XM_024453095.1:c.93472A>T (TTN)	XP_024308863.1:p.Lys31158Ter
XM_024453096.1:c.92905A>T (TTN)	XP_024308864.1:p.Lys30969Ter
XM_024453097.1:c.90247A>T (TTN)	XP_024308865.1:p.Lys30083Ter
XM_024453098.1:c.90166A>T (TTN)	XP_024308866.1:p.Lys30056Ter
XM_024453099.1:c.71929A>T (TTN)	XP_024308867.1:p.Lys23977Ter
XM_024453100.1:c.61783A>T (TTN)	XP_024308868.1:p.Lys20595Ter