Canonical Allele Identifier: CA1985434

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466727
• ClinVar RCV Id: RCV000539062 ; RCV003139777
• dbSNP Id: rs769788281
• ExAC: 2:179396983 T / C
• gnomAD v2: 2-179396983-T-C
• gnomAD v3: 2-178532256-T-C
• gnomAD v4: 2-178532256-T-C
• MyVariant Identifiers: chr2:g.179396983T>C (hg19) ; chr2:g.178532256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532256T>C , CM000664.2:g.178532256T>C	GRCh38
NC_000002.11:g.179396983T>C , CM000664.1:g.179396983T>C	GRCh37
NC_000002.10:g.179105229T>C	NCBI36
NG_011618.3:g.303547A>G , LRG_391:g.303547A>G
NG_051363.1:g.14430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96655A>G (TTN)	ENSP00000343764.6:p.Lys32219Glu
ENST00000342175.11:c.77740A>G (TTN)	ENSP00000340554.6:p.Lys25914Glu
ENST00000359218.10:c.77539A>G (TTN)	ENSP00000352154.5:p.Lys25847Glu
ENST00000342175.10:c.77740A>G (TTN)	ENSP00000340554.6:p.Lys25914Glu
ENST00000342992.10:c.96655A>G (TTN)	ENSP00000343764.6:p.Lys32219Glu
ENST00000359218.9:c.77539A>G (TTN)	ENSP00000352154.5:p.Lys25847Glu
ENST00000460472.6:c.77164A>G (TTN)	ENSP00000434586.1:p.Lys25722Glu
ENST00000589042.5:c.104359A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys34787Glu
ENST00000591111.5:c.99436A>G (TTN)	ENSP00000465570.1:p.Lys33146Glu
ENST00000615779.4:c.99436A>G (TTN)	ENSP00000483597.1:p.Lys33146Glu
NM_001256850.1:c.99436A>G (TTN)	NP_001243779.1:p.Lys33146Glu
NM_001267550.2:c.104359A>G (TTN) MANE Select	NP_001254479.2:p.Lys34787Glu
NM_003319.4:c.77164A>G (TTN)	NP_003310.4:p.Lys25722Glu
NM_133378.4:c.96655A>G (TTN)	NP_596869.4:p.Lys32219Glu
NM_133432.3:c.77539A>G (TTN)	NP_597676.3:p.Lys25847Glu
NM_133437.4:c.77740A>G (TTN)	NP_597681.4:p.Lys25914Glu
NR_038271.1:n.446+8620T>C (TTN-AS1)
NR_038272.1:n.220-3476T>C (TTN-AS1)
XM_011511729.1:c.103456A>G (TTN)	XP_011510031.1:p.Lys34486Glu
XM_011511730.1:c.77350A>G (TTN)	XP_011510032.1:p.Lys25784Glu
XM_011511731.1:c.77209A>G (TTN)	XP_011510033.1:p.Lys25737Glu
XM_017004819.1:c.103252A>G (TTN)	XP_016860308.1:p.Lys34418Glu
XM_017004820.1:c.98650A>G (TTN)	XP_016860309.1:p.Lys32884Glu
XM_017004821.1:c.98647A>G (TTN)	XP_016860310.1:p.Lys32883Glu
XM_017004822.1:c.95689A>G (TTN)	XP_016860311.1:p.Lys31897Glu
XM_017004823.1:c.77305A>G (TTN)	XP_016860312.1:p.Lys25769Glu
XM_024453094.1:c.98800A>G (TTN)	XP_024308862.1:p.Lys32934Glu
XM_024453095.1:c.98797A>G (TTN)	XP_024308863.1:p.Lys32933Glu
XM_024453096.1:c.98230A>G (TTN)	XP_024308864.1:p.Lys32744Glu
XM_024453097.1:c.95572A>G (TTN)	XP_024308865.1:p.Lys31858Glu
XM_024453098.1:c.95491A>G (TTN)	XP_024308866.1:p.Lys31831Glu
XM_024453099.1:c.77254A>G (TTN)	XP_024308867.1:p.Lys25752Glu
XM_024453100.1:c.67108A>G (TTN)	XP_024308868.1:p.Lys22370Glu