Canonical Allele Identifier: CA349457347

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1696070748
• gnomAD v4: 2-178544421-A-T
• MyVariant Identifiers: chr2:g.179409148A>T (hg19) ; chr2:g.178544421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544421A>T , CM000664.2:g.178544421A>T	GRCh38
NC_000002.11:g.179409148A>T , CM000664.1:g.179409148A>T	GRCh37
NC_000002.10:g.179117394A>T	NCBI36
NG_011618.3:g.291382T>A , LRG_391:g.291382T>A
NG_051363.1:g.26595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88104T>A (TTN)	ENSP00000343764.6:p.Asp29368Glu
ENST00000342175.11:c.69189T>A (TTN)	ENSP00000340554.6:p.Asp23063Glu
ENST00000359218.10:c.68988T>A (TTN)	ENSP00000352154.5:p.Asp22996Glu
ENST00000342175.10:c.69189T>A (TTN)	ENSP00000340554.6:p.Asp23063Glu
ENST00000342992.10:c.88104T>A (TTN)	ENSP00000343764.6:p.Asp29368Glu
ENST00000359218.9:c.68988T>A (TTN)	ENSP00000352154.5:p.Asp22996Glu
ENST00000460472.6:c.68613T>A (TTN)	ENSP00000434586.1:p.Asp22871Glu
ENST00000589042.5:c.95808T>A (TTN) MANE Select	ENSP00000467141.1:p.Asp31936Glu
ENST00000591111.5:c.90885T>A (TTN)	ENSP00000465570.1:p.Asp30295Glu
ENST00000615779.4:c.90885T>A (TTN)	ENSP00000483597.1:p.Asp30295Glu
NM_001256850.1:c.90885T>A (TTN)	NP_001243779.1:p.Asp30295Glu
NM_001267550.2:c.95808T>A (TTN) MANE Select	NP_001254479.2:p.Asp31936Glu
NM_003319.4:c.68613T>A (TTN)	NP_003310.4:p.Asp22871Glu
NM_133378.4:c.88104T>A (TTN)	NP_596869.4:p.Asp29368Glu
NM_133432.3:c.68988T>A (TTN)	NP_597676.3:p.Asp22996Glu
NM_133437.4:c.69189T>A (TTN)	NP_597681.4:p.Asp23063Glu
NR_038271.1:n.446+20785A>T (TTN-AS1)
NR_038272.1:n.2043+2060A>T (TTN-AS1)
XM_011511729.1:c.94905T>A (TTN)	XP_011510031.1:p.Asp31635Glu
XM_011511730.1:c.68799T>A (TTN)	XP_011510032.1:p.Asp22933Glu
XM_011511731.1:c.68658T>A (TTN)	XP_011510033.1:p.Asp22886Glu
XM_017004819.1:c.94701T>A (TTN)	XP_016860308.1:p.Asp31567Glu
XM_017004820.1:c.90099T>A (TTN)	XP_016860309.1:p.Asp30033Glu
XM_017004821.1:c.90096T>A (TTN)	XP_016860310.1:p.Asp30032Glu
XM_017004822.1:c.87138T>A (TTN)	XP_016860311.1:p.Asp29046Glu
XM_017004823.1:c.68754T>A (TTN)	XP_016860312.1:p.Asp22918Glu
XM_024453094.1:c.90249T>A (TTN)	XP_024308862.1:p.Asp30083Glu
XM_024453095.1:c.90246T>A (TTN)	XP_024308863.1:p.Asp30082Glu
XM_024453096.1:c.89679T>A (TTN)	XP_024308864.1:p.Asp29893Glu
XM_024453097.1:c.87021T>A (TTN)	XP_024308865.1:p.Asp29007Glu
XM_024453098.1:c.86940T>A (TTN)	XP_024308866.1:p.Asp28980Glu
XM_024453099.1:c.68703T>A (TTN)	XP_024308867.1:p.Asp22901Glu
XM_024453100.1:c.58557T>A (TTN)	XP_024308868.1:p.Asp19519Glu