Canonical Allele Identifier: CA349450819

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543881-T-C
• MyVariant Identifiers: chr2:g.179408608T>C (hg19) ; chr2:g.178543881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543881T>C , CM000664.2:g.178543881T>C	GRCh38
NC_000002.11:g.179408608T>C , CM000664.1:g.179408608T>C	GRCh37
NC_000002.10:g.179116854T>C	NCBI36
NG_011618.3:g.291922A>G , LRG_391:g.291922A>G
NG_051363.1:g.26055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88559A>G (TTN)	ENSP00000343764.6:p.Glu29520Gly
ENST00000342175.11:c.69644A>G (TTN)	ENSP00000340554.6:p.Glu23215Gly
ENST00000359218.10:c.69443A>G (TTN)	ENSP00000352154.5:p.Glu23148Gly
ENST00000342175.10:c.69644A>G (TTN)	ENSP00000340554.6:p.Glu23215Gly
ENST00000342992.10:c.88559A>G (TTN)	ENSP00000343764.6:p.Glu29520Gly
ENST00000359218.9:c.69443A>G (TTN)	ENSP00000352154.5:p.Glu23148Gly
ENST00000460472.6:c.69068A>G (TTN)	ENSP00000434586.1:p.Glu23023Gly
ENST00000589042.5:c.96263A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu32088Gly
ENST00000591111.5:c.91340A>G (TTN)	ENSP00000465570.1:p.Glu30447Gly
ENST00000615779.4:c.91340A>G (TTN)	ENSP00000483597.1:p.Glu30447Gly
NM_001256850.1:c.91340A>G (TTN)	NP_001243779.1:p.Glu30447Gly
NM_001267550.2:c.96263A>G (TTN) MANE Select	NP_001254479.2:p.Glu32088Gly
NM_003319.4:c.69068A>G (TTN)	NP_003310.4:p.Glu23023Gly
NM_133378.4:c.88559A>G (TTN)	NP_596869.4:p.Glu29520Gly
NM_133432.3:c.69443A>G (TTN)	NP_597676.3:p.Glu23148Gly
NM_133437.4:c.69644A>G (TTN)	NP_597681.4:p.Glu23215Gly
NR_038271.1:n.446+20245T>C (TTN-AS1)
NR_038272.1:n.2043+1520T>C (TTN-AS1)
XM_011511729.1:c.95360A>G (TTN)	XP_011510031.1:p.Glu31787Gly
XM_011511730.1:c.69254A>G (TTN)	XP_011510032.1:p.Glu23085Gly
XM_011511731.1:c.69113A>G (TTN)	XP_011510033.1:p.Glu23038Gly
XM_017004819.1:c.95156A>G (TTN)	XP_016860308.1:p.Glu31719Gly
XM_017004820.1:c.90554A>G (TTN)	XP_016860309.1:p.Glu30185Gly
XM_017004821.1:c.90551A>G (TTN)	XP_016860310.1:p.Glu30184Gly
XM_017004822.1:c.87593A>G (TTN)	XP_016860311.1:p.Glu29198Gly
XM_017004823.1:c.69209A>G (TTN)	XP_016860312.1:p.Glu23070Gly
XM_024453094.1:c.90704A>G (TTN)	XP_024308862.1:p.Glu30235Gly
XM_024453095.1:c.90701A>G (TTN)	XP_024308863.1:p.Glu30234Gly
XM_024453096.1:c.90134A>G (TTN)	XP_024308864.1:p.Glu30045Gly
XM_024453097.1:c.87476A>G (TTN)	XP_024308865.1:p.Glu29159Gly
XM_024453098.1:c.87395A>G (TTN)	XP_024308866.1:p.Glu29132Gly
XM_024453099.1:c.69158A>G (TTN)	XP_024308867.1:p.Glu23053Gly
XM_024453100.1:c.59012A>G (TTN)	XP_024308868.1:p.Glu19671Gly