Canonical Allele Identifier: CA349495507

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549762-G-A
• MyVariant Identifiers: chr2:g.179414489G>A (hg19) ; chr2:g.178549762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549762G>A , CM000664.2:g.178549762G>A	GRCh38
NC_000002.11:g.179414489G>A , CM000664.1:g.179414489G>A	GRCh37
NC_000002.10:g.179122735G>A	NCBI36
NG_011618.3:g.286041C>T , LRG_391:g.286041C>T
NG_051363.1:g.31936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84256C>T (TTN)	ENSP00000343764.6:p.His28086Tyr
ENST00000342175.11:c.65341C>T (TTN)	ENSP00000340554.6:p.His21781Tyr
ENST00000359218.10:c.65140C>T (TTN)	ENSP00000352154.5:p.His21714Tyr
ENST00000342175.10:c.65341C>T (TTN)	ENSP00000340554.6:p.His21781Tyr
ENST00000342992.10:c.84256C>T (TTN)	ENSP00000343764.6:p.His28086Tyr
ENST00000359218.9:c.65140C>T (TTN)	ENSP00000352154.5:p.His21714Tyr
ENST00000460472.6:c.64765C>T (TTN)	ENSP00000434586.1:p.His21589Tyr
ENST00000589042.5:c.91960C>T (TTN) MANE Select	ENSP00000467141.1:p.His30654Tyr
ENST00000591111.5:c.87037C>T (TTN)	ENSP00000465570.1:p.His29013Tyr
ENST00000615779.4:c.87037C>T (TTN)	ENSP00000483597.1:p.His29013Tyr
NM_001256850.1:c.87037C>T (TTN)	NP_001243779.1:p.His29013Tyr
NM_001267550.2:c.91960C>T (TTN) MANE Select	NP_001254479.2:p.His30654Tyr
NM_003319.4:c.64765C>T (TTN)	NP_003310.4:p.His21589Tyr
NM_133378.4:c.84256C>T (TTN)	NP_596869.4:p.His28086Tyr
NM_133432.3:c.65140C>T (TTN)	NP_597676.3:p.His21714Tyr
NM_133437.4:c.65341C>T (TTN)	NP_597681.4:p.His21781Tyr
NR_038271.1:n.447-21538G>A (TTN-AS1)
NR_038272.1:n.2043+7401G>A (TTN-AS1)
XM_011511729.1:c.91057C>T (TTN)	XP_011510031.1:p.His30353Tyr
XM_011511730.1:c.64951C>T (TTN)	XP_011510032.1:p.His21651Tyr
XM_011511731.1:c.64810C>T (TTN)	XP_011510033.1:p.His21604Tyr
XM_017004819.1:c.90853C>T (TTN)	XP_016860308.1:p.His30285Tyr
XM_017004820.1:c.86251C>T (TTN)	XP_016860309.1:p.His28751Tyr
XM_017004821.1:c.86248C>T (TTN)	XP_016860310.1:p.His28750Tyr
XM_017004822.1:c.83290C>T (TTN)	XP_016860311.1:p.His27764Tyr
XM_017004823.1:c.64906C>T (TTN)	XP_016860312.1:p.His21636Tyr
XM_024453094.1:c.86401C>T (TTN)	XP_024308862.1:p.His28801Tyr
XM_024453095.1:c.86398C>T (TTN)	XP_024308863.1:p.His28800Tyr
XM_024453096.1:c.85831C>T (TTN)	XP_024308864.1:p.His28611Tyr
XM_024453097.1:c.83173C>T (TTN)	XP_024308865.1:p.His27725Tyr
XM_024453098.1:c.83092C>T (TTN)	XP_024308866.1:p.His27698Tyr
XM_024453099.1:c.64855C>T (TTN)	XP_024308867.1:p.His21619Tyr
XM_024453100.1:c.54709C>T (TTN)	XP_024308868.1:p.His18237Tyr