Canonical Allele Identifier: CA430241973

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1144852
• ClinVar RCV Id: RCV001483504
• dbSNP Id: rs2154144265
• MyVariant Identifiers: chr2:g.179409145A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544418A>G , CM000664.2:g.178544418A>G	GRCh38
NC_000002.11:g.179409145A>G , CM000664.1:g.179409145A>G	GRCh37
NC_000002.10:g.179117391A>G	NCBI36
NG_011618.3:g.291385T>C , LRG_391:g.291385T>C
NG_051363.1:g.26592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88107T>C (TTN)	ENSP00000343764.6:p.Gly29369=
ENST00000342175.11:c.69192T>C (TTN)	ENSP00000340554.6:p.Gly23064=
ENST00000359218.10:c.68991T>C (TTN)	ENSP00000352154.5:p.Gly22997=
ENST00000342175.10:c.69192T>C (TTN)	ENSP00000340554.6:p.Gly23064=
ENST00000342992.10:c.88107T>C (TTN)	ENSP00000343764.6:p.Gly29369=
ENST00000359218.9:c.68991T>C (TTN)	ENSP00000352154.5:p.Gly22997=
ENST00000460472.6:c.68616T>C (TTN)	ENSP00000434586.1:p.Gly22872=
ENST00000589042.5:c.95811T>C (TTN) MANE Select	ENSP00000467141.1:p.Gly31937=
ENST00000591111.5:c.90888T>C (TTN)	ENSP00000465570.1:p.Gly30296=
ENST00000615779.4:c.90888T>C (TTN)	ENSP00000483597.1:p.Gly30296=
NM_001256850.1:c.90888T>C (TTN)	NP_001243779.1:p.Gly30296=
NM_001267550.2:c.95811T>C (TTN) MANE Select	NP_001254479.2:p.Gly31937=
NM_003319.4:c.68616T>C (TTN)	NP_003310.4:p.Gly22872=
NM_133378.4:c.88107T>C (TTN)	NP_596869.4:p.Gly29369=
NM_133432.3:c.68991T>C (TTN)	NP_597676.3:p.Gly22997=
NM_133437.4:c.69192T>C (TTN)	NP_597681.4:p.Gly23064=
NR_038271.1:n.446+20782A>G (TTN-AS1)
NR_038272.1:n.2043+2057A>G (TTN-AS1)
XM_011511729.1:c.94908T>C (TTN)	XP_011510031.1:p.Gly31636=
XM_011511730.1:c.68802T>C (TTN)	XP_011510032.1:p.Gly22934=
XM_011511731.1:c.68661T>C (TTN)	XP_011510033.1:p.Gly22887=
XM_017004819.1:c.94704T>C (TTN)	XP_016860308.1:p.Gly31568=
XM_017004820.1:c.90102T>C (TTN)	XP_016860309.1:p.Gly30034=
XM_017004821.1:c.90099T>C (TTN)	XP_016860310.1:p.Gly30033=
XM_017004822.1:c.87141T>C (TTN)	XP_016860311.1:p.Gly29047=
XM_017004823.1:c.68757T>C (TTN)	XP_016860312.1:p.Gly22919=
XM_024453094.1:c.90252T>C (TTN)	XP_024308862.1:p.Gly30084=
XM_024453095.1:c.90249T>C (TTN)	XP_024308863.1:p.Gly30083=
XM_024453096.1:c.89682T>C (TTN)	XP_024308864.1:p.Gly29894=
XM_024453097.1:c.87024T>C (TTN)	XP_024308865.1:p.Gly29008=
XM_024453098.1:c.86943T>C (TTN)	XP_024308866.1:p.Gly28981=
XM_024453099.1:c.68706T>C (TTN)	XP_024308867.1:p.Gly22902=
XM_024453100.1:c.58560T>C (TTN)	XP_024308868.1:p.Gly19520=