Canonical Allele Identifier: CA349406246

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530315-C-A
• MyVariant Identifiers: chr2:g.179395042C>A (hg19) ; chr2:g.178530315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530315C>A , CM000664.2:g.178530315C>A	GRCh38
NC_000002.11:g.179395042C>A , CM000664.1:g.179395042C>A	GRCh37
NC_000002.10:g.179103288C>A	NCBI36
NG_011618.3:g.305488G>T , LRG_391:g.305488G>T
NG_051363.1:g.12489C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98596G>T (TTN)	ENSP00000343764.6:p.Asp32866Tyr
ENST00000342175.11:c.79681G>T (TTN)	ENSP00000340554.6:p.Asp26561Tyr
ENST00000359218.10:c.79480G>T (TTN)	ENSP00000352154.5:p.Asp26494Tyr
ENST00000342175.10:c.79681G>T (TTN)	ENSP00000340554.6:p.Asp26561Tyr
ENST00000342992.10:c.98596G>T (TTN)	ENSP00000343764.6:p.Asp32866Tyr
ENST00000359218.9:c.79480G>T (TTN)	ENSP00000352154.5:p.Asp26494Tyr
ENST00000460472.6:c.79105G>T (TTN)	ENSP00000434586.1:p.Asp26369Tyr
ENST00000589042.5:c.106300G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp35434Tyr
ENST00000591111.5:c.101377G>T (TTN)	ENSP00000465570.1:p.Asp33793Tyr
ENST00000615779.4:c.101377G>T (TTN)	ENSP00000483597.1:p.Asp33793Tyr
NM_001256850.1:c.101377G>T (TTN)	NP_001243779.1:p.Asp33793Tyr
NM_001267550.2:c.106300G>T (TTN) MANE Select	NP_001254479.2:p.Asp35434Tyr
NM_003319.4:c.79105G>T (TTN)	NP_003310.4:p.Asp26369Tyr
NM_133378.4:c.98596G>T (TTN)	NP_596869.4:p.Asp32866Tyr
NM_133432.3:c.79480G>T (TTN)	NP_597676.3:p.Asp26494Tyr
NM_133437.4:c.79681G>T (TTN)	NP_597681.4:p.Asp26561Tyr
NR_038271.1:n.446+6679C>A (TTN-AS1)
NR_038272.1:n.220-5417C>A (TTN-AS1)
XM_011511729.1:c.105397G>T (TTN)	XP_011510031.1:p.Asp35133Tyr
XM_011511730.1:c.79291G>T (TTN)	XP_011510032.1:p.Asp26431Tyr
XM_011511731.1:c.79150G>T (TTN)	XP_011510033.1:p.Asp26384Tyr
XM_017004819.1:c.105193G>T (TTN)	XP_016860308.1:p.Asp35065Tyr
XM_017004820.1:c.100591G>T (TTN)	XP_016860309.1:p.Asp33531Tyr
XM_017004821.1:c.100588G>T (TTN)	XP_016860310.1:p.Asp33530Tyr
XM_017004822.1:c.97630G>T (TTN)	XP_016860311.1:p.Asp32544Tyr
XM_017004823.1:c.79246G>T (TTN)	XP_016860312.1:p.Asp26416Tyr
XM_024453094.1:c.100741G>T (TTN)	XP_024308862.1:p.Asp33581Tyr
XM_024453095.1:c.100738G>T (TTN)	XP_024308863.1:p.Asp33580Tyr
XM_024453096.1:c.100171G>T (TTN)	XP_024308864.1:p.Asp33391Tyr
XM_024453097.1:c.97513G>T (TTN)	XP_024308865.1:p.Asp32505Tyr
XM_024453098.1:c.97432G>T (TTN)	XP_024308866.1:p.Asp32478Tyr
XM_024453099.1:c.79195G>T (TTN)	XP_024308867.1:p.Asp26399Tyr
XM_024453100.1:c.69049G>T (TTN)	XP_024308868.1:p.Asp23017Tyr