Canonical Allele Identifier: CA349407088

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530539-C-T
• MyVariant Identifiers: chr2:g.179395266C>T (hg19) ; chr2:g.178530539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530539C>T , CM000664.2:g.178530539C>T	GRCh38
NC_000002.11:g.179395266C>T , CM000664.1:g.179395266C>T	GRCh37
NC_000002.10:g.179103512C>T	NCBI36
NG_011618.3:g.305264G>A , LRG_391:g.305264G>A
NG_051363.1:g.12713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98372G>A (TTN)	ENSP00000343764.6:p.Cys32791Tyr
ENST00000342175.11:c.79457G>A (TTN)	ENSP00000340554.6:p.Cys26486Tyr
ENST00000359218.10:c.79256G>A (TTN)	ENSP00000352154.5:p.Cys26419Tyr
ENST00000342175.10:c.79457G>A (TTN)	ENSP00000340554.6:p.Cys26486Tyr
ENST00000342992.10:c.98372G>A (TTN)	ENSP00000343764.6:p.Cys32791Tyr
ENST00000359218.9:c.79256G>A (TTN)	ENSP00000352154.5:p.Cys26419Tyr
ENST00000460472.6:c.78881G>A (TTN)	ENSP00000434586.1:p.Cys26294Tyr
ENST00000589042.5:c.106076G>A (TTN) MANE Select	ENSP00000467141.1:p.Cys35359Tyr
ENST00000591111.5:c.101153G>A (TTN)	ENSP00000465570.1:p.Cys33718Tyr
ENST00000615779.4:c.101153G>A (TTN)	ENSP00000483597.1:p.Cys33718Tyr
NM_001256850.1:c.101153G>A (TTN)	NP_001243779.1:p.Cys33718Tyr
NM_001267550.2:c.106076G>A (TTN) MANE Select	NP_001254479.2:p.Cys35359Tyr
NM_003319.4:c.78881G>A (TTN)	NP_003310.4:p.Cys26294Tyr
NM_133378.4:c.98372G>A (TTN)	NP_596869.4:p.Cys32791Tyr
NM_133432.3:c.79256G>A (TTN)	NP_597676.3:p.Cys26419Tyr
NM_133437.4:c.79457G>A (TTN)	NP_597681.4:p.Cys26486Tyr
NR_038271.1:n.446+6903C>T (TTN-AS1)
NR_038272.1:n.220-5193C>T (TTN-AS1)
XM_011511729.1:c.105173G>A (TTN)	XP_011510031.1:p.Cys35058Tyr
XM_011511730.1:c.79067G>A (TTN)	XP_011510032.1:p.Cys26356Tyr
XM_011511731.1:c.78926G>A (TTN)	XP_011510033.1:p.Cys26309Tyr
XM_017004819.1:c.104969G>A (TTN)	XP_016860308.1:p.Cys34990Tyr
XM_017004820.1:c.100367G>A (TTN)	XP_016860309.1:p.Cys33456Tyr
XM_017004821.1:c.100364G>A (TTN)	XP_016860310.1:p.Cys33455Tyr
XM_017004822.1:c.97406G>A (TTN)	XP_016860311.1:p.Cys32469Tyr
XM_017004823.1:c.79022G>A (TTN)	XP_016860312.1:p.Cys26341Tyr
XM_024453094.1:c.100517G>A (TTN)	XP_024308862.1:p.Cys33506Tyr
XM_024453095.1:c.100514G>A (TTN)	XP_024308863.1:p.Cys33505Tyr
XM_024453096.1:c.99947G>A (TTN)	XP_024308864.1:p.Cys33316Tyr
XM_024453097.1:c.97289G>A (TTN)	XP_024308865.1:p.Cys32430Tyr
XM_024453098.1:c.97208G>A (TTN)	XP_024308866.1:p.Cys32403Tyr
XM_024453099.1:c.78971G>A (TTN)	XP_024308867.1:p.Cys26324Tyr
XM_024453100.1:c.68825G>A (TTN)	XP_024308868.1:p.Cys22942Tyr