Canonical Allele Identifier: CA349445826

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 598297
• ClinVar RCV Id: RCV000734656
• dbSNP Id: rs1559121031
• MyVariant Identifiers: chr2:g.179407993C>T (hg19) ; chr2:g.178543266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543266C>T , CM000664.2:g.178543266C>T	GRCh38
NC_000002.11:g.179407993C>T , CM000664.1:g.179407993C>T	GRCh37
NC_000002.10:g.179116239C>T	NCBI36
NG_011618.3:g.292537G>A , LRG_391:g.292537G>A
NG_051363.1:g.25440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89003G>A (TTN)	ENSP00000343764.6:p.Gly29668Glu
ENST00000342175.11:c.70088G>A (TTN)	ENSP00000340554.6:p.Gly23363Glu
ENST00000359218.10:c.69887G>A (TTN)	ENSP00000352154.5:p.Gly23296Glu
ENST00000342175.10:c.70088G>A (TTN)	ENSP00000340554.6:p.Gly23363Glu
ENST00000342992.10:c.89003G>A (TTN)	ENSP00000343764.6:p.Gly29668Glu
ENST00000359218.9:c.69887G>A (TTN)	ENSP00000352154.5:p.Gly23296Glu
ENST00000460472.6:c.69512G>A (TTN)	ENSP00000434586.1:p.Gly23171Glu
ENST00000589042.5:c.96707G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly32236Glu
ENST00000591111.5:c.91784G>A (TTN)	ENSP00000465570.1:p.Gly30595Glu
ENST00000615779.4:c.91784G>A (TTN)	ENSP00000483597.1:p.Gly30595Glu
NM_001256850.1:c.91784G>A (TTN)	NP_001243779.1:p.Gly30595Glu
NM_001267550.2:c.96707G>A (TTN) MANE Select	NP_001254479.2:p.Gly32236Glu
NM_003319.4:c.69512G>A (TTN)	NP_003310.4:p.Gly23171Glu
NM_133378.4:c.89003G>A (TTN)	NP_596869.4:p.Gly29668Glu
NM_133432.3:c.69887G>A (TTN)	NP_597676.3:p.Gly23296Glu
NM_133437.4:c.70088G>A (TTN)	NP_597681.4:p.Gly23363Glu
NR_038271.1:n.446+19630C>T (TTN-AS1)
NR_038272.1:n.2043+905C>T (TTN-AS1)
XM_011511729.1:c.95804G>A (TTN)	XP_011510031.1:p.Gly31935Glu
XM_011511730.1:c.69698G>A (TTN)	XP_011510032.1:p.Gly23233Glu
XM_011511731.1:c.69557G>A (TTN)	XP_011510033.1:p.Gly23186Glu
XM_017004819.1:c.95600G>A (TTN)	XP_016860308.1:p.Gly31867Glu
XM_017004820.1:c.90998G>A (TTN)	XP_016860309.1:p.Gly30333Glu
XM_017004821.1:c.90995G>A (TTN)	XP_016860310.1:p.Gly30332Glu
XM_017004822.1:c.88037G>A (TTN)	XP_016860311.1:p.Gly29346Glu
XM_017004823.1:c.69653G>A (TTN)	XP_016860312.1:p.Gly23218Glu
XM_024453094.1:c.91148G>A (TTN)	XP_024308862.1:p.Gly30383Glu
XM_024453095.1:c.91145G>A (TTN)	XP_024308863.1:p.Gly30382Glu
XM_024453096.1:c.90578G>A (TTN)	XP_024308864.1:p.Gly30193Glu
XM_024453097.1:c.87920G>A (TTN)	XP_024308865.1:p.Gly29307Glu
XM_024453098.1:c.87839G>A (TTN)	XP_024308866.1:p.Gly29280Glu
XM_024453099.1:c.69602G>A (TTN)	XP_024308867.1:p.Gly23201Glu
XM_024453100.1:c.59456G>A (TTN)	XP_024308868.1:p.Gly19819Glu