Canonical Allele Identifier: CA310846

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202970
• ClinVar RCV Id: RCV000184961 ; RCV002054187 ; RCV003165417
• dbSNP Id: rs794729527
• gnomAD v4: 2-178552030-G-A
• MyVariant Identifiers: chr2:g.179416757G>A (hg19) ; chr2:g.178552030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552030G>A , CM000664.2:g.178552030G>A	GRCh38
NC_000002.11:g.179416757G>A , CM000664.1:g.179416757G>A	GRCh37
NC_000002.10:g.179125003G>A	NCBI36
NG_011618.3:g.283773C>T , LRG_391:g.283773C>T
NG_051363.1:g.34204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83166C>T (TTN)	ENSP00000343764.6:p.Val27722=
ENST00000342175.11:c.64251C>T (TTN)	ENSP00000340554.6:p.Val21417=
ENST00000359218.10:c.64050C>T (TTN)	ENSP00000352154.5:p.Val21350=
ENST00000342175.10:c.64251C>T (TTN)	ENSP00000340554.6:p.Val21417=
ENST00000342992.10:c.83166C>T (TTN)	ENSP00000343764.6:p.Val27722=
ENST00000359218.9:c.64050C>T (TTN)	ENSP00000352154.5:p.Val21350=
ENST00000460472.6:c.63675C>T (TTN)	ENSP00000434586.1:p.Val21225=
ENST00000589042.5:c.90870C>T (TTN) MANE Select	ENSP00000467141.1:p.Val30290=
ENST00000591111.5:c.85947C>T (TTN)	ENSP00000465570.1:p.Val28649=
ENST00000615779.4:c.85947C>T (TTN)	ENSP00000483597.1:p.Val28649=
NM_001256850.1:c.85947C>T (TTN)	NP_001243779.1:p.Val28649=
NM_001267550.2:c.90870C>T (TTN) MANE Select	NP_001254479.2:p.Val30290=
NM_003319.4:c.63675C>T (TTN)	NP_003310.4:p.Val21225=
NM_133378.4:c.83166C>T (TTN)	NP_596869.4:p.Val27722=
NM_133432.3:c.64050C>T (TTN)	NP_597676.3:p.Val21350=
NM_133437.4:c.64251C>T (TTN)	NP_597681.4:p.Val21417=
NR_038271.1:n.447-19270G>A (TTN-AS1)
NR_038272.1:n.2043+9669G>A (TTN-AS1)
XM_011511729.1:c.89967C>T (TTN)	XP_011510031.1:p.Val29989=
XM_011511730.1:c.63861C>T (TTN)	XP_011510032.1:p.Val21287=
XM_011511731.1:c.63720C>T (TTN)	XP_011510033.1:p.Val21240=
XM_017004819.1:c.89763C>T (TTN)	XP_016860308.1:p.Val29921=
XM_017004820.1:c.85161C>T (TTN)	XP_016860309.1:p.Val28387=
XM_017004821.1:c.85158C>T (TTN)	XP_016860310.1:p.Val28386=
XM_017004822.1:c.82200C>T (TTN)	XP_016860311.1:p.Val27400=
XM_017004823.1:c.63816C>T (TTN)	XP_016860312.1:p.Val21272=
XM_024453094.1:c.85311C>T (TTN)	XP_024308862.1:p.Val28437=
XM_024453095.1:c.85308C>T (TTN)	XP_024308863.1:p.Val28436=
XM_024453096.1:c.84741C>T (TTN)	XP_024308864.1:p.Val28247=
XM_024453097.1:c.82083C>T (TTN)	XP_024308865.1:p.Val27361=
XM_024453098.1:c.82002C>T (TTN)	XP_024308866.1:p.Val27334=
XM_024453099.1:c.63765C>T (TTN)	XP_024308867.1:p.Val21255=
XM_024453100.1:c.53619C>T (TTN)	XP_024308868.1:p.Val17873=