Canonical Allele Identifier: CA430244832

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs758196170
• gnomAD v3: 2-178549805-C-G
• gnomAD v4: 2-178549805-C-G
• MyVariant Identifiers: chr2:g.179414532C>G (hg19) ; chr2:g.178549805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549805C>G , CM000664.2:g.178549805C>G	GRCh38
NC_000002.11:g.179414532C>G , CM000664.1:g.179414532C>G	GRCh37
NC_000002.10:g.179122778C>G	NCBI36
NG_011618.3:g.285998G>C , LRG_391:g.285998G>C
NG_051363.1:g.31979C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84213G>C (TTN)	ENSP00000343764.6:p.Leu28071=
ENST00000342175.11:c.65298G>C (TTN)	ENSP00000340554.6:p.Leu21766=
ENST00000359218.10:c.65097G>C (TTN)	ENSP00000352154.5:p.Leu21699=
ENST00000342175.10:c.65298G>C (TTN)	ENSP00000340554.6:p.Leu21766=
ENST00000342992.10:c.84213G>C (TTN)	ENSP00000343764.6:p.Leu28071=
ENST00000359218.9:c.65097G>C (TTN)	ENSP00000352154.5:p.Leu21699=
ENST00000460472.6:c.64722G>C (TTN)	ENSP00000434586.1:p.Leu21574=
ENST00000589042.5:c.91917G>C (TTN) MANE Select	ENSP00000467141.1:p.Leu30639=
ENST00000591111.5:c.86994G>C (TTN)	ENSP00000465570.1:p.Leu28998=
ENST00000615779.4:c.86994G>C (TTN)	ENSP00000483597.1:p.Leu28998=
NM_001256850.1:c.86994G>C (TTN)	NP_001243779.1:p.Leu28998=
NM_001267550.2:c.91917G>C (TTN) MANE Select	NP_001254479.2:p.Leu30639=
NM_003319.4:c.64722G>C (TTN)	NP_003310.4:p.Leu21574=
NM_133378.4:c.84213G>C (TTN)	NP_596869.4:p.Leu28071=
NM_133432.3:c.65097G>C (TTN)	NP_597676.3:p.Leu21699=
NM_133437.4:c.65298G>C (TTN)	NP_597681.4:p.Leu21766=
NR_038271.1:n.447-21495C>G (TTN-AS1)
NR_038272.1:n.2043+7444C>G (TTN-AS1)
XM_011511729.1:c.91014G>C (TTN)	XP_011510031.1:p.Leu30338=
XM_011511730.1:c.64908G>C (TTN)	XP_011510032.1:p.Leu21636=
XM_011511731.1:c.64767G>C (TTN)	XP_011510033.1:p.Leu21589=
XM_017004819.1:c.90810G>C (TTN)	XP_016860308.1:p.Leu30270=
XM_017004820.1:c.86208G>C (TTN)	XP_016860309.1:p.Leu28736=
XM_017004821.1:c.86205G>C (TTN)	XP_016860310.1:p.Leu28735=
XM_017004822.1:c.83247G>C (TTN)	XP_016860311.1:p.Leu27749=
XM_017004823.1:c.64863G>C (TTN)	XP_016860312.1:p.Leu21621=
XM_024453094.1:c.86358G>C (TTN)	XP_024308862.1:p.Leu28786=
XM_024453095.1:c.86355G>C (TTN)	XP_024308863.1:p.Leu28785=
XM_024453096.1:c.85788G>C (TTN)	XP_024308864.1:p.Leu28596=
XM_024453097.1:c.83130G>C (TTN)	XP_024308865.1:p.Leu27710=
XM_024453098.1:c.83049G>C (TTN)	XP_024308866.1:p.Leu27683=
XM_024453099.1:c.64812G>C (TTN)	XP_024308867.1:p.Leu21604=
XM_024453100.1:c.54666G>C (TTN)	XP_024308868.1:p.Leu18222=