Canonical Allele Identifier: CA16604132

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 388627
• ClinVar RCV Id: RCV000439903
• dbSNP Id: rs1057523177
• gnomAD v4: 2-178582296-C-A
• MyVariant Identifiers: chr2:g.179447023C>A (hg19) ; chr2:g.178582296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178582296C>A , CM000664.2:g.178582296C>A	GRCh38
NC_000002.11:g.179447023C>A , CM000664.1:g.179447023C>A	GRCh37
NC_000002.10:g.179155269C>A	NCBI36
NG_011618.3:g.253507G>T , LRG_391:g.253507G>T
NG_051363.1:g.64470C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.58456G>T (TTN)	ENSP00000343764.6:p.Asp19486Tyr
ENST00000342175.11:c.39541G>T (TTN)	ENSP00000340554.6:p.Asp13181Tyr
ENST00000359218.10:c.39340G>T (TTN)	ENSP00000352154.5:p.Asp13114Tyr
ENST00000342175.10:c.39541G>T (TTN)	ENSP00000340554.6:p.Asp13181Tyr
ENST00000342992.10:c.58456G>T (TTN)	ENSP00000343764.6:p.Asp19486Tyr
ENST00000359218.9:c.39340G>T (TTN)	ENSP00000352154.5:p.Asp13114Tyr
ENST00000460472.6:c.38965G>T (TTN)	ENSP00000434586.1:p.Asp12989Tyr
ENST00000589042.5:c.66160G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp22054Tyr
ENST00000591111.5:c.61237G>T (TTN)	ENSP00000465570.1:p.Asp20413Tyr
ENST00000615779.4:c.61237G>T (TTN)	ENSP00000483597.1:p.Asp20413Tyr
NM_001256850.1:c.61237G>T (TTN)	NP_001243779.1:p.Asp20413Tyr
NM_001267550.2:c.66160G>T (TTN) MANE Select	NP_001254479.2:p.Asp22054Tyr
NM_003319.4:c.38965G>T (TTN)	NP_003310.4:p.Asp12989Tyr
NM_133378.4:c.58456G>T (TTN)	NP_596869.4:p.Asp19486Tyr
NM_133432.3:c.39340G>T (TTN)	NP_597676.3:p.Asp13114Tyr
NM_133437.4:c.39541G>T (TTN)	NP_597681.4:p.Asp13181Tyr
NR_038271.1:n.596+10847C>A (TTN-AS1)
NR_038272.1:n.2044-276C>A (TTN-AS1)
XM_011511729.1:c.65257G>T (TTN)	XP_011510031.1:p.Asp21753Tyr
XM_011511730.1:c.39151G>T (TTN)	XP_011510032.1:p.Asp13051Tyr
XM_011511731.1:c.39010G>T (TTN)	XP_011510033.1:p.Asp13004Tyr
XM_017004819.1:c.65053G>T (TTN)	XP_016860308.1:p.Asp21685Tyr
XM_017004820.1:c.60451G>T (TTN)	XP_016860309.1:p.Asp20151Tyr
XM_017004821.1:c.60448G>T (TTN)	XP_016860310.1:p.Asp20150Tyr
XM_017004822.1:c.57490G>T (TTN)	XP_016860311.1:p.Asp19164Tyr
XM_017004823.1:c.39106G>T (TTN)	XP_016860312.1:p.Asp13036Tyr
XM_024453094.1:c.60601G>T (TTN)	XP_024308862.1:p.Asp20201Tyr
XM_024453095.1:c.60598G>T (TTN)	XP_024308863.1:p.Asp20200Tyr
XM_024453096.1:c.60031G>T (TTN)	XP_024308864.1:p.Asp20011Tyr
XM_024453097.1:c.57373G>T (TTN)	XP_024308865.1:p.Asp19125Tyr
XM_024453098.1:c.57292G>T (TTN)	XP_024308866.1:p.Asp19098Tyr
XM_024453099.1:c.39055G>T (TTN)	XP_024308867.1:p.Asp13019Tyr
XM_024453100.1:c.28909G>T (TTN)	XP_024308868.1:p.Asp9637Tyr