Canonical Allele Identifier: CA269799

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 130686
• ClinVar RCV Id: RCV000118795
• dbSNP Id: rs587780495
• MyVariant Identifiers: chr2:g.179404186C>G (hg19) ; chr2:g.178539459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539459C>G , CM000664.2:g.178539459C>G	GRCh38
NC_000002.11:g.179404186C>G , CM000664.1:g.179404186C>G	GRCh37
NC_000002.10:g.179112432C>G	NCBI36
NG_011618.3:g.296344G>C , LRG_391:g.296344G>C
NG_051363.1:g.21633C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90902G>C (TTN)	ENSP00000343764.6:p.Arg30301Pro
ENST00000342175.11:c.71987G>C (TTN)	ENSP00000340554.6:p.Arg23996Pro
ENST00000359218.10:c.71786G>C (TTN)	ENSP00000352154.5:p.Arg23929Pro
ENST00000342175.10:c.71987G>C (TTN)	ENSP00000340554.6:p.Arg23996Pro
ENST00000342992.10:c.90902G>C (TTN)	ENSP00000343764.6:p.Arg30301Pro
ENST00000359218.9:c.71786G>C (TTN)	ENSP00000352154.5:p.Arg23929Pro
ENST00000460472.6:c.71411G>C (TTN)	ENSP00000434586.1:p.Arg23804Pro
ENST00000589042.5:c.98606G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg32869Pro
ENST00000591111.5:c.93683G>C (TTN)	ENSP00000465570.1:p.Arg31228Pro
ENST00000615779.4:c.93683G>C (TTN)	ENSP00000483597.1:p.Arg31228Pro
NM_001256850.1:c.93683G>C (TTN)	NP_001243779.1:p.Arg31228Pro
NM_001267550.2:c.98606G>C (TTN) MANE Select	NP_001254479.2:p.Arg32869Pro
NM_003319.4:c.71411G>C (TTN)	NP_003310.4:p.Arg23804Pro
NM_133378.4:c.90902G>C (TTN)	NP_596869.4:p.Arg30301Pro
NM_133432.3:c.71786G>C (TTN)	NP_597676.3:p.Arg23929Pro
NM_133437.4:c.71987G>C (TTN)	NP_597681.4:p.Arg23996Pro
NR_038271.1:n.446+15823C>G (TTN-AS1)
NR_038272.1:n.1409C>G (TTN-AS1)
XM_011511729.1:c.97703G>C (TTN)	XP_011510031.1:p.Arg32568Pro
XM_011511730.1:c.71597G>C (TTN)	XP_011510032.1:p.Arg23866Pro
XM_011511731.1:c.71456G>C (TTN)	XP_011510033.1:p.Arg23819Pro
XM_017004819.1:c.97499G>C (TTN)	XP_016860308.1:p.Arg32500Pro
XM_017004820.1:c.92897G>C (TTN)	XP_016860309.1:p.Arg30966Pro
XM_017004821.1:c.92894G>C (TTN)	XP_016860310.1:p.Arg30965Pro
XM_017004822.1:c.89936G>C (TTN)	XP_016860311.1:p.Arg29979Pro
XM_017004823.1:c.71552G>C (TTN)	XP_016860312.1:p.Arg23851Pro
XM_024453094.1:c.93047G>C (TTN)	XP_024308862.1:p.Arg31016Pro
XM_024453095.1:c.93044G>C (TTN)	XP_024308863.1:p.Arg31015Pro
XM_024453096.1:c.92477G>C (TTN)	XP_024308864.1:p.Arg30826Pro
XM_024453097.1:c.89819G>C (TTN)	XP_024308865.1:p.Arg29940Pro
XM_024453098.1:c.89738G>C (TTN)	XP_024308866.1:p.Arg29913Pro
XM_024453099.1:c.71501G>C (TTN)	XP_024308867.1:p.Arg23834Pro
XM_024453100.1:c.61355G>C (TTN)	XP_024308868.1:p.Arg20452Pro