Canonical Allele Identifier: CA309264

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs769392594
• MyVariant Identifiers: chr2:g.179472983T>A (hg19) ; chr2:g.178608256T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608256T>A , CM000664.2:g.178608256T>A	GRCh38
NC_000002.11:g.179472983T>A , CM000664.1:g.179472983T>A	GRCh37
NC_000002.10:g.179181228T>A	NCBI36
NG_011618.3:g.227547A>T , LRG_391:g.227547A>T
NG_051363.1:g.90430T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.44923A>T (TTN)	ENSP00000343764.6:p.Arg14975Ter
ENST00000342175.11:c.26008A>T (TTN)	ENSP00000340554.6:p.Arg8670Ter
ENST00000359218.10:c.25807A>T (TTN)	ENSP00000352154.5:p.Arg8603Ter
ENST00000342175.10:c.26008A>T (TTN)	ENSP00000340554.6:p.Arg8670Ter
ENST00000342992.10:c.44923A>T (TTN)	ENSP00000343764.6:p.Arg14975Ter
ENST00000359218.9:c.25807A>T (TTN)	ENSP00000352154.5:p.Arg8603Ter
ENST00000460472.6:c.25432A>T (TTN)	ENSP00000434586.1:p.Arg8478Ter
ENST00000589042.5:c.52627A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg17543Ter
ENST00000591111.5:c.47704A>T (TTN)	ENSP00000465570.1:p.Arg15902Ter
ENST00000615779.4:c.47704A>T (TTN)	ENSP00000483597.1:p.Arg15902Ter
NM_001256850.1:c.47704A>T (TTN)	NP_001243779.1:p.Arg15902Ter
NM_001267550.2:c.52627A>T (TTN) MANE Select	NP_001254479.2:p.Arg17543Ter
NM_003319.4:c.25432A>T (TTN)	NP_003310.4:p.Arg8478Ter
NM_133378.4:c.44923A>T (TTN)	NP_596869.4:p.Arg14975Ter
NM_133432.3:c.25807A>T (TTN)	NP_597676.3:p.Arg8603Ter
NM_133437.4:c.26008A>T (TTN)	NP_597681.4:p.Arg8670Ter
NR_038271.1:n.772T>A (TTN-AS1)
XM_011511729.1:c.51724A>T (TTN)	XP_011510031.1:p.Arg17242Ter
XM_011511730.1:c.25618A>T (TTN)	XP_011510032.1:p.Arg8540Ter
XM_011511731.1:c.25477A>T (TTN)	XP_011510033.1:p.Arg8493Ter
XM_017004819.1:c.51520A>T (TTN)	XP_016860308.1:p.Arg17174Ter
XM_017004820.1:c.46918A>T (TTN)	XP_016860309.1:p.Arg15640Ter
XM_017004821.1:c.46915A>T (TTN)	XP_016860310.1:p.Arg15639Ter
XM_017004822.1:c.43957A>T (TTN)	XP_016860311.1:p.Arg14653Ter
XM_017004823.1:c.25573A>T (TTN)	XP_016860312.1:p.Arg8525Ter
XM_024453094.1:c.47068A>T (TTN)	XP_024308862.1:p.Arg15690Ter
XM_024453095.1:c.47065A>T (TTN)	XP_024308863.1:p.Arg15689Ter
XM_024453096.1:c.46498A>T (TTN)	XP_024308864.1:p.Arg15500Ter
XM_024453097.1:c.43840A>T (TTN)	XP_024308865.1:p.Arg14614Ter
XM_024453098.1:c.43759A>T (TTN)	XP_024308866.1:p.Arg14587Ter
XM_024453099.1:c.25522A>T (TTN)	XP_024308867.1:p.Arg8508Ter
XM_024453100.1:c.15376A>T (TTN)	XP_024308868.1:p.Arg5126Ter