Canonical Allele Identifier: CA349407050

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2946668
• ClinVar RCV Id: RCV003808906
• dbSNP Id: rs1407917338
• gnomAD v2: 2-179395250-T-G
• gnomAD v3: 2-178530523-T-G
• gnomAD v4: 2-178530523-T-G
• MyVariant Identifiers: chr2:g.179395250T>G (hg19) ; chr2:g.178530523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530523T>G , CM000664.2:g.178530523T>G	GRCh38
NC_000002.11:g.179395250T>G , CM000664.1:g.179395250T>G	GRCh37
NC_000002.10:g.179103496T>G	NCBI36
NG_011618.3:g.305280A>C , LRG_391:g.305280A>C
NG_051363.1:g.12697T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98388A>C (TTN)	ENSP00000343764.6:p.Glu32796Asp
ENST00000342175.11:c.79473A>C (TTN)	ENSP00000340554.6:p.Glu26491Asp
ENST00000359218.10:c.79272A>C (TTN)	ENSP00000352154.5:p.Glu26424Asp
ENST00000342175.10:c.79473A>C (TTN)	ENSP00000340554.6:p.Glu26491Asp
ENST00000342992.10:c.98388A>C (TTN)	ENSP00000343764.6:p.Glu32796Asp
ENST00000359218.9:c.79272A>C (TTN)	ENSP00000352154.5:p.Glu26424Asp
ENST00000460472.6:c.78897A>C (TTN)	ENSP00000434586.1:p.Glu26299Asp
ENST00000589042.5:c.106092A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35364Asp
ENST00000591111.5:c.101169A>C (TTN)	ENSP00000465570.1:p.Glu33723Asp
ENST00000615779.4:c.101169A>C (TTN)	ENSP00000483597.1:p.Glu33723Asp
NM_001256850.1:c.101169A>C (TTN)	NP_001243779.1:p.Glu33723Asp
NM_001267550.2:c.106092A>C (TTN) MANE Select	NP_001254479.2:p.Glu35364Asp
NM_003319.4:c.78897A>C (TTN)	NP_003310.4:p.Glu26299Asp
NM_133378.4:c.98388A>C (TTN)	NP_596869.4:p.Glu32796Asp
NM_133432.3:c.79272A>C (TTN)	NP_597676.3:p.Glu26424Asp
NM_133437.4:c.79473A>C (TTN)	NP_597681.4:p.Glu26491Asp
NR_038271.1:n.446+6887T>G (TTN-AS1)
NR_038272.1:n.220-5209T>G (TTN-AS1)
XM_011511729.1:c.105189A>C (TTN)	XP_011510031.1:p.Glu35063Asp
XM_011511730.1:c.79083A>C (TTN)	XP_011510032.1:p.Glu26361Asp
XM_011511731.1:c.78942A>C (TTN)	XP_011510033.1:p.Glu26314Asp
XM_017004819.1:c.104985A>C (TTN)	XP_016860308.1:p.Glu34995Asp
XM_017004820.1:c.100383A>C (TTN)	XP_016860309.1:p.Glu33461Asp
XM_017004821.1:c.100380A>C (TTN)	XP_016860310.1:p.Glu33460Asp
XM_017004822.1:c.97422A>C (TTN)	XP_016860311.1:p.Glu32474Asp
XM_017004823.1:c.79038A>C (TTN)	XP_016860312.1:p.Glu26346Asp
XM_024453094.1:c.100533A>C (TTN)	XP_024308862.1:p.Glu33511Asp
XM_024453095.1:c.100530A>C (TTN)	XP_024308863.1:p.Glu33510Asp
XM_024453096.1:c.99963A>C (TTN)	XP_024308864.1:p.Glu33321Asp
XM_024453097.1:c.97305A>C (TTN)	XP_024308865.1:p.Glu32435Asp
XM_024453098.1:c.97224A>C (TTN)	XP_024308866.1:p.Glu32408Asp
XM_024453099.1:c.78987A>C (TTN)	XP_024308867.1:p.Glu26329Asp
XM_024453100.1:c.68841A>C (TTN)	XP_024308868.1:p.Glu22947Asp