Canonical Allele Identifier: CA1985103

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 284002
• ClinVar RCV Id: RCV000274809 ; RCV000643584 ; RCV001131858 ; RCV001132844 ; RCV001132845 ; RCV001132846 ; RCV001132843 ; RCV001798771 ; RCV002418111 ; RCV003987488
• dbSNP Id: rs200716018
• ExAC: 2:179394776 T / C
• gnomAD v2: 2-179394776-T-C
• gnomAD v3: 2-178530049-T-C
• gnomAD v4: 2-178530049-T-C
• MyVariant Identifiers: chr2:g.179394776T>C (hg19) ; chr2:g.178530049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530049T>C , CM000664.2:g.178530049T>C	GRCh38
NC_000002.11:g.179394776T>C , CM000664.1:g.179394776T>C	GRCh37
NC_000002.10:g.179103022T>C	NCBI36
NG_011618.3:g.305754A>G , LRG_391:g.305754A>G
NG_051363.1:g.12223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98738A>G (TTN)	ENSP00000343764.6:p.Lys32913Arg
ENST00000342175.11:c.79823A>G (TTN)	ENSP00000340554.6:p.Lys26608Arg
ENST00000359218.10:c.79622A>G (TTN)	ENSP00000352154.5:p.Lys26541Arg
ENST00000342175.10:c.79823A>G (TTN)	ENSP00000340554.6:p.Lys26608Arg
ENST00000342992.10:c.98738A>G (TTN)	ENSP00000343764.6:p.Lys32913Arg
ENST00000359218.9:c.79622A>G (TTN)	ENSP00000352154.5:p.Lys26541Arg
ENST00000460472.6:c.79247A>G (TTN)	ENSP00000434586.1:p.Lys26416Arg
ENST00000589042.5:c.106442A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys35481Arg
ENST00000591111.5:c.101519A>G (TTN)	ENSP00000465570.1:p.Lys33840Arg
ENST00000615779.4:c.101519A>G (TTN)	ENSP00000483597.1:p.Lys33840Arg
NM_001256850.1:c.101519A>G (TTN)	NP_001243779.1:p.Lys33840Arg
NM_001267550.2:c.106442A>G (TTN) MANE Select	NP_001254479.2:p.Lys35481Arg
NM_003319.4:c.79247A>G (TTN)	NP_003310.4:p.Lys26416Arg
NM_133378.4:c.98738A>G (TTN)	NP_596869.4:p.Lys32913Arg
NM_133432.3:c.79622A>G (TTN)	NP_597676.3:p.Lys26541Arg
NM_133437.4:c.79823A>G (TTN)	NP_597681.4:p.Lys26608Arg
NR_038271.1:n.446+6413T>C (TTN-AS1)
NR_038272.1:n.220-5683T>C (TTN-AS1)
XM_011511729.1:c.105539A>G (TTN)	XP_011510031.1:p.Lys35180Arg
XM_011511730.1:c.79433A>G (TTN)	XP_011510032.1:p.Lys26478Arg
XM_011511731.1:c.79292A>G (TTN)	XP_011510033.1:p.Lys26431Arg
XM_017004819.1:c.105335A>G (TTN)	XP_016860308.1:p.Lys35112Arg
XM_017004820.1:c.100733A>G (TTN)	XP_016860309.1:p.Lys33578Arg
XM_017004821.1:c.100730A>G (TTN)	XP_016860310.1:p.Lys33577Arg
XM_017004822.1:c.97772A>G (TTN)	XP_016860311.1:p.Lys32591Arg
XM_017004823.1:c.79388A>G (TTN)	XP_016860312.1:p.Lys26463Arg
XM_024453094.1:c.100883A>G (TTN)	XP_024308862.1:p.Lys33628Arg
XM_024453095.1:c.100880A>G (TTN)	XP_024308863.1:p.Lys33627Arg
XM_024453096.1:c.100313A>G (TTN)	XP_024308864.1:p.Lys33438Arg
XM_024453097.1:c.97655A>G (TTN)	XP_024308865.1:p.Lys32552Arg
XM_024453098.1:c.97574A>G (TTN)	XP_024308866.1:p.Lys32525Arg
XM_024453099.1:c.79337A>G (TTN)	XP_024308867.1:p.Lys26446Arg
XM_024453100.1:c.69191A>G (TTN)	XP_024308868.1:p.Lys23064Arg