Canonical Allele Identifier: CA349614340

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434154C>A (hg19) ; chr2:g.178569427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569427C>A , CM000664.2:g.178569427C>A	GRCh38
NC_000002.11:g.179434154C>A , CM000664.1:g.179434154C>A	GRCh37
NC_000002.10:g.179142400C>A	NCBI36
NG_011618.3:g.266376G>T , LRG_391:g.266376G>T
NG_051363.1:g.51601C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69001G>T (TTN)	ENSP00000343764.6:p.Asp23001Tyr
ENST00000342175.11:c.50086G>T (TTN)	ENSP00000340554.6:p.Asp16696Tyr
ENST00000359218.10:c.49885G>T (TTN)	ENSP00000352154.5:p.Asp16629Tyr
ENST00000342175.10:c.50086G>T (TTN)	ENSP00000340554.6:p.Asp16696Tyr
ENST00000342992.10:c.69001G>T (TTN)	ENSP00000343764.6:p.Asp23001Tyr
ENST00000359218.9:c.49885G>T (TTN)	ENSP00000352154.5:p.Asp16629Tyr
ENST00000460472.6:c.49510G>T (TTN)	ENSP00000434586.1:p.Asp16504Tyr
ENST00000589042.5:c.76705G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp25569Tyr
ENST00000591111.5:c.71782G>T (TTN)	ENSP00000465570.1:p.Asp23928Tyr
ENST00000615779.4:c.71782G>T (TTN)	ENSP00000483597.1:p.Asp23928Tyr
NM_001256850.1:c.71782G>T (TTN)	NP_001243779.1:p.Asp23928Tyr
NM_001267550.2:c.76705G>T (TTN) MANE Select	NP_001254479.2:p.Asp25569Tyr
NM_003319.4:c.49510G>T (TTN)	NP_003310.4:p.Asp16504Tyr
NM_133378.4:c.69001G>T (TTN)	NP_596869.4:p.Asp23001Tyr
NM_133432.3:c.49885G>T (TTN)	NP_597676.3:p.Asp16629Tyr
NM_133437.4:c.50086G>T (TTN)	NP_597681.4:p.Asp16696Tyr
NR_038271.1:n.447-1873C>A (TTN-AS1)
NR_038272.1:n.2044-13145C>A (TTN-AS1)
XM_011511729.1:c.75802G>T (TTN)	XP_011510031.1:p.Asp25268Tyr
XM_011511730.1:c.49696G>T (TTN)	XP_011510032.1:p.Asp16566Tyr
XM_011511731.1:c.49555G>T (TTN)	XP_011510033.1:p.Asp16519Tyr
XM_017004819.1:c.75598G>T (TTN)	XP_016860308.1:p.Asp25200Tyr
XM_017004820.1:c.70996G>T (TTN)	XP_016860309.1:p.Asp23666Tyr
XM_017004821.1:c.70993G>T (TTN)	XP_016860310.1:p.Asp23665Tyr
XM_017004822.1:c.68035G>T (TTN)	XP_016860311.1:p.Asp22679Tyr
XM_017004823.1:c.49651G>T (TTN)	XP_016860312.1:p.Asp16551Tyr
XM_024453094.1:c.71146G>T (TTN)	XP_024308862.1:p.Asp23716Tyr
XM_024453095.1:c.71143G>T (TTN)	XP_024308863.1:p.Asp23715Tyr
XM_024453096.1:c.70576G>T (TTN)	XP_024308864.1:p.Asp23526Tyr
XM_024453097.1:c.67918G>T (TTN)	XP_024308865.1:p.Asp22640Tyr
XM_024453098.1:c.67837G>T (TTN)	XP_024308866.1:p.Asp22613Tyr
XM_024453099.1:c.49600G>T (TTN)	XP_024308867.1:p.Asp16534Tyr
XM_024453100.1:c.39454G>T (TTN)	XP_024308868.1:p.Asp13152Tyr