Canonical Allele Identifier: CA16617336

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 423780
• ClinVar RCV Id: RCV000485162
• dbSNP Id: rs2555818
• MyVariant Identifiers: chr2:g.179411026A>C (hg19) ; chr2:g.178546299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546299A>C , CM000664.2:g.178546299A>C	GRCh38
NC_000002.11:g.179411026A>C , CM000664.1:g.179411026A>C	GRCh37
NC_000002.10:g.179119272A>C	NCBI36
NG_011618.3:g.289504T>G , LRG_391:g.289504T>G
NG_051363.1:g.28473A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87328T>G (TTN)	ENSP00000343764.6:p.Cys29110Gly
ENST00000342175.11:c.68413T>G (TTN)	ENSP00000340554.6:p.Cys22805Gly
ENST00000359218.10:c.68212T>G (TTN)	ENSP00000352154.5:p.Cys22738Gly
ENST00000342175.10:c.68413T>G (TTN)	ENSP00000340554.6:p.Cys22805Gly
ENST00000342992.10:c.87328T>G (TTN)	ENSP00000343764.6:p.Cys29110Gly
ENST00000359218.9:c.68212T>G (TTN)	ENSP00000352154.5:p.Cys22738Gly
ENST00000460472.6:c.67837T>G (TTN)	ENSP00000434586.1:p.Cys22613Gly
ENST00000589042.5:c.95032T>G (TTN) MANE Select	ENSP00000467141.1:p.Cys31678Gly
ENST00000591111.5:c.90109T>G (TTN)	ENSP00000465570.1:p.Cys30037Gly
ENST00000615779.4:c.90109T>G (TTN)	ENSP00000483597.1:p.Cys30037Gly
NM_001256850.1:c.90109T>G (TTN)	NP_001243779.1:p.Cys30037Gly
NM_001267550.2:c.95032T>G (TTN) MANE Select	NP_001254479.2:p.Cys31678Gly
NM_003319.4:c.67837T>G (TTN)	NP_003310.4:p.Cys22613Gly
NM_133378.4:c.87328T>G (TTN)	NP_596869.4:p.Cys29110Gly
NM_133432.3:c.68212T>G (TTN)	NP_597676.3:p.Cys22738Gly
NM_133437.4:c.68413T>G (TTN)	NP_597681.4:p.Cys22805Gly
NR_038271.1:n.446+22663A>C (TTN-AS1)
NR_038272.1:n.2043+3938A>C (TTN-AS1)
XM_011511729.1:c.94129T>G (TTN)	XP_011510031.1:p.Cys31377Gly
XM_011511730.1:c.68023T>G (TTN)	XP_011510032.1:p.Cys22675Gly
XM_011511731.1:c.67882T>G (TTN)	XP_011510033.1:p.Cys22628Gly
XM_017004819.1:c.93925T>G (TTN)	XP_016860308.1:p.Cys31309Gly
XM_017004820.1:c.89323T>G (TTN)	XP_016860309.1:p.Cys29775Gly
XM_017004821.1:c.89320T>G (TTN)	XP_016860310.1:p.Cys29774Gly
XM_017004822.1:c.86362T>G (TTN)	XP_016860311.1:p.Cys28788Gly
XM_017004823.1:c.67978T>G (TTN)	XP_016860312.1:p.Cys22660Gly
XM_024453094.1:c.89473T>G (TTN)	XP_024308862.1:p.Cys29825Gly
XM_024453095.1:c.89470T>G (TTN)	XP_024308863.1:p.Cys29824Gly
XM_024453096.1:c.88903T>G (TTN)	XP_024308864.1:p.Cys29635Gly
XM_024453097.1:c.86245T>G (TTN)	XP_024308865.1:p.Cys28749Gly
XM_024453098.1:c.86164T>G (TTN)	XP_024308866.1:p.Cys28722Gly
XM_024453099.1:c.67927T>G (TTN)	XP_024308867.1:p.Cys22643Gly
XM_024453100.1:c.57781T>G (TTN)	XP_024308868.1:p.Cys19261Gly