Canonical Allele Identifier: CA349407002

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395227A>T (hg19) ; chr2:g.178530500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530500A>T , CM000664.2:g.178530500A>T	GRCh38
NC_000002.11:g.179395227A>T , CM000664.1:g.179395227A>T	GRCh37
NC_000002.10:g.179103473A>T	NCBI36
NG_011618.3:g.305303T>A , LRG_391:g.305303T>A
NG_051363.1:g.12674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98411T>A (TTN)	ENSP00000343764.6:p.Leu32804Ter
ENST00000342175.11:c.79496T>A (TTN)	ENSP00000340554.6:p.Leu26499Ter
ENST00000359218.10:c.79295T>A (TTN)	ENSP00000352154.5:p.Leu26432Ter
ENST00000342175.10:c.79496T>A (TTN)	ENSP00000340554.6:p.Leu26499Ter
ENST00000342992.10:c.98411T>A (TTN)	ENSP00000343764.6:p.Leu32804Ter
ENST00000359218.9:c.79295T>A (TTN)	ENSP00000352154.5:p.Leu26432Ter
ENST00000460472.6:c.78920T>A (TTN)	ENSP00000434586.1:p.Leu26307Ter
ENST00000589042.5:c.106115T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35372Ter
ENST00000591111.5:c.101192T>A (TTN)	ENSP00000465570.1:p.Leu33731Ter
ENST00000615779.4:c.101192T>A (TTN)	ENSP00000483597.1:p.Leu33731Ter
NM_001256850.1:c.101192T>A (TTN)	NP_001243779.1:p.Leu33731Ter
NM_001267550.2:c.106115T>A (TTN) MANE Select	NP_001254479.2:p.Leu35372Ter
NM_003319.4:c.78920T>A (TTN)	NP_003310.4:p.Leu26307Ter
NM_133378.4:c.98411T>A (TTN)	NP_596869.4:p.Leu32804Ter
NM_133432.3:c.79295T>A (TTN)	NP_597676.3:p.Leu26432Ter
NM_133437.4:c.79496T>A (TTN)	NP_597681.4:p.Leu26499Ter
NR_038271.1:n.446+6864A>T (TTN-AS1)
NR_038272.1:n.220-5232A>T (TTN-AS1)
XM_011511729.1:c.105212T>A (TTN)	XP_011510031.1:p.Leu35071Ter
XM_011511730.1:c.79106T>A (TTN)	XP_011510032.1:p.Leu26369Ter
XM_011511731.1:c.78965T>A (TTN)	XP_011510033.1:p.Leu26322Ter
XM_017004819.1:c.105008T>A (TTN)	XP_016860308.1:p.Leu35003Ter
XM_017004820.1:c.100406T>A (TTN)	XP_016860309.1:p.Leu33469Ter
XM_017004821.1:c.100403T>A (TTN)	XP_016860310.1:p.Leu33468Ter
XM_017004822.1:c.97445T>A (TTN)	XP_016860311.1:p.Leu32482Ter
XM_017004823.1:c.79061T>A (TTN)	XP_016860312.1:p.Leu26354Ter
XM_024453094.1:c.100556T>A (TTN)	XP_024308862.1:p.Leu33519Ter
XM_024453095.1:c.100553T>A (TTN)	XP_024308863.1:p.Leu33518Ter
XM_024453096.1:c.99986T>A (TTN)	XP_024308864.1:p.Leu33329Ter
XM_024453097.1:c.97328T>A (TTN)	XP_024308865.1:p.Leu32443Ter
XM_024453098.1:c.97247T>A (TTN)	XP_024308866.1:p.Leu32416Ter
XM_024453099.1:c.79010T>A (TTN)	XP_024308867.1:p.Leu26337Ter
XM_024453100.1:c.68864T>A (TTN)	XP_024308868.1:p.Leu22955Ter