Canonical Allele Identifier: CA309495

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202520
• ClinVar RCV Id: RCV000184389 ; RCV002516948
• dbSNP Id: rs794729381
• MyVariant Identifiers: chr2:g.179439296C>A (hg19) ; chr2:g.178574569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574569C>A , CM000664.2:g.178574569C>A	GRCh38
NC_000002.11:g.179439296C>A , CM000664.1:g.179439296C>A	GRCh37
NC_000002.10:g.179147542C>A	NCBI36
NG_011618.3:g.261234G>T , LRG_391:g.261234G>T
NG_051363.1:g.56743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63859G>T (TTN)	ENSP00000343764.6:p.Gly21287Ter
ENST00000342175.11:c.44944G>T (TTN)	ENSP00000340554.6:p.Gly14982Ter
ENST00000359218.10:c.44743G>T (TTN)	ENSP00000352154.5:p.Gly14915Ter
ENST00000342175.10:c.44944G>T (TTN)	ENSP00000340554.6:p.Gly14982Ter
ENST00000342992.10:c.63859G>T (TTN)	ENSP00000343764.6:p.Gly21287Ter
ENST00000359218.9:c.44743G>T (TTN)	ENSP00000352154.5:p.Gly14915Ter
ENST00000460472.6:c.44368G>T (TTN)	ENSP00000434586.1:p.Gly14790Ter
ENST00000589042.5:c.71563G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly23855Ter
ENST00000591111.5:c.66640G>T (TTN)	ENSP00000465570.1:p.Gly22214Ter
ENST00000615779.4:c.66640G>T (TTN)	ENSP00000483597.1:p.Gly22214Ter
NM_001256850.1:c.66640G>T (TTN)	NP_001243779.1:p.Gly22214Ter
NM_001267550.2:c.71563G>T (TTN) MANE Select	NP_001254479.2:p.Gly23855Ter
NM_003319.4:c.44368G>T (TTN)	NP_003310.4:p.Gly14790Ter
NM_133378.4:c.63859G>T (TTN)	NP_596869.4:p.Gly21287Ter
NM_133432.3:c.44743G>T (TTN)	NP_597676.3:p.Gly14915Ter
NM_133437.4:c.44944G>T (TTN)	NP_597681.4:p.Gly14982Ter
NR_038271.1:n.596+3120C>A (TTN-AS1)
NR_038272.1:n.2044-8003C>A (TTN-AS1)
XM_011511729.1:c.70660G>T (TTN)	XP_011510031.1:p.Gly23554Ter
XM_011511730.1:c.44554G>T (TTN)	XP_011510032.1:p.Gly14852Ter
XM_011511731.1:c.44413G>T (TTN)	XP_011510033.1:p.Gly14805Ter
XM_017004819.1:c.70456G>T (TTN)	XP_016860308.1:p.Gly23486Ter
XM_017004820.1:c.65854G>T (TTN)	XP_016860309.1:p.Gly21952Ter
XM_017004821.1:c.65851G>T (TTN)	XP_016860310.1:p.Gly21951Ter
XM_017004822.1:c.62893G>T (TTN)	XP_016860311.1:p.Gly20965Ter
XM_017004823.1:c.44509G>T (TTN)	XP_016860312.1:p.Gly14837Ter
XM_024453094.1:c.66004G>T (TTN)	XP_024308862.1:p.Gly22002Ter
XM_024453095.1:c.66001G>T (TTN)	XP_024308863.1:p.Gly22001Ter
XM_024453096.1:c.65434G>T (TTN)	XP_024308864.1:p.Gly21812Ter
XM_024453097.1:c.62776G>T (TTN)	XP_024308865.1:p.Gly20926Ter
XM_024453098.1:c.62695G>T (TTN)	XP_024308866.1:p.Gly20899Ter
XM_024453099.1:c.44458G>T (TTN)	XP_024308867.1:p.Gly14820Ter
XM_024453100.1:c.34312G>T (TTN)	XP_024308868.1:p.Gly11438Ter