Canonical Allele Identifier: CA10606226

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 288797
• ClinVar RCV Id: RCV000393926 ; RCV000704790
• dbSNP Id: rs886044009
• MyVariant Identifiers: chr2:g.179482183G>A (hg19) ; chr2:g.178617456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178617456G>A , CM000664.2:g.178617456G>A	GRCh38
NC_000002.11:g.179482183G>A , CM000664.1:g.179482183G>A	GRCh37
NC_000002.10:g.179190428G>A	NCBI36
NG_011618.3:g.218347C>T , LRG_391:g.218347C>T
NG_051363.1:g.99630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39925C>T (TTN)	ENSP00000343764.6:p.Gln13309Ter
ENST00000342175.11:c.21010C>T (TTN)	ENSP00000340554.6:p.Gln7004Ter
ENST00000359218.10:c.20809C>T (TTN)	ENSP00000352154.5:p.Gln6937Ter
ENST00000342175.10:c.21010C>T (TTN)	ENSP00000340554.6:p.Gln7004Ter
ENST00000342992.10:c.39925C>T (TTN)	ENSP00000343764.6:p.Gln13309Ter
ENST00000359218.9:c.20809C>T (TTN)	ENSP00000352154.5:p.Gln6937Ter
ENST00000460472.6:c.20434C>T (TTN)	ENSP00000434586.1:p.Gln6812Ter
ENST00000589042.5:c.47629C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln15877Ter
ENST00000591111.5:c.42706C>T (TTN)	ENSP00000465570.1:p.Gln14236Ter
ENST00000615779.4:c.42706C>T (TTN)	ENSP00000483597.1:p.Gln14236Ter
NM_001256850.1:c.42706C>T (TTN)	NP_001243779.1:p.Gln14236Ter
NM_001267550.2:c.47629C>T (TTN) MANE Select	NP_001254479.2:p.Gln15877Ter
NM_003319.4:c.20434C>T (TTN)	NP_003310.4:p.Gln6812Ter
NM_133378.4:c.39925C>T (TTN)	NP_596869.4:p.Gln13309Ter
NM_133432.3:c.20809C>T (TTN)	NP_597676.3:p.Gln6937Ter
NM_133437.4:c.21010C>T (TTN)	NP_597681.4:p.Gln7004Ter
NR_038271.1:n.1604+2082G>A (TTN-AS1)
XM_011511729.1:c.46726C>T (TTN)	XP_011510031.1:p.Gln15576Ter
XM_011511730.1:c.20620C>T (TTN)	XP_011510032.1:p.Gln6874Ter
XM_011511731.1:c.20479C>T (TTN)	XP_011510033.1:p.Gln6827Ter
XM_017004819.1:c.46522C>T (TTN)	XP_016860308.1:p.Gln15508Ter
XM_017004820.1:c.41920C>T (TTN)	XP_016860309.1:p.Gln13974Ter
XM_017004821.1:c.41917C>T (TTN)	XP_016860310.1:p.Gln13973Ter
XM_017004822.1:c.38959C>T (TTN)	XP_016860311.1:p.Gln12987Ter
XM_017004823.1:c.20575C>T (TTN)	XP_016860312.1:p.Gln6859Ter
XM_024453094.1:c.42070C>T (TTN)	XP_024308862.1:p.Gln14024Ter
XM_024453095.1:c.42067C>T (TTN)	XP_024308863.1:p.Gln14023Ter
XM_024453096.1:c.41500C>T (TTN)	XP_024308864.1:p.Gln13834Ter
XM_024453097.1:c.38842C>T (TTN)	XP_024308865.1:p.Gln12948Ter
XM_024453098.1:c.38761C>T (TTN)	XP_024308866.1:p.Gln12921Ter
XM_024453099.1:c.20524C>T (TTN)	XP_024308867.1:p.Gln6842Ter
XM_024453100.1:c.10378C>T (TTN)	XP_024308868.1:p.Gln3460Ter