Canonical Allele Identifier: CA349407159

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1688670150
• gnomAD v4: 2-178530573-T-G
• MyVariant Identifiers: chr2:g.179395300T>G (hg19) ; chr2:g.178530573T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530573T>G , CM000664.2:g.178530573T>G	GRCh38
NC_000002.11:g.179395300T>G , CM000664.1:g.179395300T>G	GRCh37
NC_000002.10:g.179103546T>G	NCBI36
NG_011618.3:g.305230A>C , LRG_391:g.305230A>C
NG_051363.1:g.12747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98338A>C (TTN)	ENSP00000343764.6:p.Asn32780His
ENST00000342175.11:c.79423A>C (TTN)	ENSP00000340554.6:p.Asn26475His
ENST00000359218.10:c.79222A>C (TTN)	ENSP00000352154.5:p.Asn26408His
ENST00000342175.10:c.79423A>C (TTN)	ENSP00000340554.6:p.Asn26475His
ENST00000342992.10:c.98338A>C (TTN)	ENSP00000343764.6:p.Asn32780His
ENST00000359218.9:c.79222A>C (TTN)	ENSP00000352154.5:p.Asn26408His
ENST00000460472.6:c.78847A>C (TTN)	ENSP00000434586.1:p.Asn26283His
ENST00000589042.5:c.106042A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn35348His
ENST00000591111.5:c.101119A>C (TTN)	ENSP00000465570.1:p.Asn33707His
ENST00000615779.4:c.101119A>C (TTN)	ENSP00000483597.1:p.Asn33707His
NM_001256850.1:c.101119A>C (TTN)	NP_001243779.1:p.Asn33707His
NM_001267550.2:c.106042A>C (TTN) MANE Select	NP_001254479.2:p.Asn35348His
NM_003319.4:c.78847A>C (TTN)	NP_003310.4:p.Asn26283His
NM_133378.4:c.98338A>C (TTN)	NP_596869.4:p.Asn32780His
NM_133432.3:c.79222A>C (TTN)	NP_597676.3:p.Asn26408His
NM_133437.4:c.79423A>C (TTN)	NP_597681.4:p.Asn26475His
NR_038271.1:n.446+6937T>G (TTN-AS1)
NR_038272.1:n.220-5159T>G (TTN-AS1)
XM_011511729.1:c.105139A>C (TTN)	XP_011510031.1:p.Asn35047His
XM_011511730.1:c.79033A>C (TTN)	XP_011510032.1:p.Asn26345His
XM_011511731.1:c.78892A>C (TTN)	XP_011510033.1:p.Asn26298His
XM_017004819.1:c.104935A>C (TTN)	XP_016860308.1:p.Asn34979His
XM_017004820.1:c.100333A>C (TTN)	XP_016860309.1:p.Asn33445His
XM_017004821.1:c.100330A>C (TTN)	XP_016860310.1:p.Asn33444His
XM_017004822.1:c.97372A>C (TTN)	XP_016860311.1:p.Asn32458His
XM_017004823.1:c.78988A>C (TTN)	XP_016860312.1:p.Asn26330His
XM_024453094.1:c.100483A>C (TTN)	XP_024308862.1:p.Asn33495His
XM_024453095.1:c.100480A>C (TTN)	XP_024308863.1:p.Asn33494His
XM_024453096.1:c.99913A>C (TTN)	XP_024308864.1:p.Asn33305His
XM_024453097.1:c.97255A>C (TTN)	XP_024308865.1:p.Asn32419His
XM_024453098.1:c.97174A>C (TTN)	XP_024308866.1:p.Asn32392His
XM_024453099.1:c.78937A>C (TTN)	XP_024308867.1:p.Asn26313His
XM_024453100.1:c.68791A>C (TTN)	XP_024308868.1:p.Asn22931His