Canonical Allele Identifier: CA16610337

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404650
• ClinVar RCV Id: RCV001379687
• dbSNP Id: rs1060500402
• MyVariant Identifiers: chr2:g.179414484G>T (hg19) ; chr2:g.178549757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549757G>T , CM000664.2:g.178549757G>T	GRCh38
NC_000002.11:g.179414484G>T , CM000664.1:g.179414484G>T	GRCh37
NC_000002.10:g.179122730G>T	NCBI36
NG_011618.3:g.286046C>A , LRG_391:g.286046C>A
NG_051363.1:g.31931G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84261C>A (TTN)	ENSP00000343764.6:p.Tyr28087Ter
ENST00000342175.11:c.65346C>A (TTN)	ENSP00000340554.6:p.Tyr21782Ter
ENST00000359218.10:c.65145C>A (TTN)	ENSP00000352154.5:p.Tyr21715Ter
ENST00000342175.10:c.65346C>A (TTN)	ENSP00000340554.6:p.Tyr21782Ter
ENST00000342992.10:c.84261C>A (TTN)	ENSP00000343764.6:p.Tyr28087Ter
ENST00000359218.9:c.65145C>A (TTN)	ENSP00000352154.5:p.Tyr21715Ter
ENST00000460472.6:c.64770C>A (TTN)	ENSP00000434586.1:p.Tyr21590Ter
ENST00000589042.5:c.91965C>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr30655Ter
ENST00000591111.5:c.87042C>A (TTN)	ENSP00000465570.1:p.Tyr29014Ter
ENST00000615779.4:c.87042C>A (TTN)	ENSP00000483597.1:p.Tyr29014Ter
NM_001256850.1:c.87042C>A (TTN)	NP_001243779.1:p.Tyr29014Ter
NM_001267550.2:c.91965C>A (TTN) MANE Select	NP_001254479.2:p.Tyr30655Ter
NM_003319.4:c.64770C>A (TTN)	NP_003310.4:p.Tyr21590Ter
NM_133378.4:c.84261C>A (TTN)	NP_596869.4:p.Tyr28087Ter
NM_133432.3:c.65145C>A (TTN)	NP_597676.3:p.Tyr21715Ter
NM_133437.4:c.65346C>A (TTN)	NP_597681.4:p.Tyr21782Ter
NR_038271.1:n.447-21543G>T (TTN-AS1)
NR_038272.1:n.2043+7396G>T (TTN-AS1)
XM_011511729.1:c.91062C>A (TTN)	XP_011510031.1:p.Tyr30354Ter
XM_011511730.1:c.64956C>A (TTN)	XP_011510032.1:p.Tyr21652Ter
XM_011511731.1:c.64815C>A (TTN)	XP_011510033.1:p.Tyr21605Ter
XM_017004819.1:c.90858C>A (TTN)	XP_016860308.1:p.Tyr30286Ter
XM_017004820.1:c.86256C>A (TTN)	XP_016860309.1:p.Tyr28752Ter
XM_017004821.1:c.86253C>A (TTN)	XP_016860310.1:p.Tyr28751Ter
XM_017004822.1:c.83295C>A (TTN)	XP_016860311.1:p.Tyr27765Ter
XM_017004823.1:c.64911C>A (TTN)	XP_016860312.1:p.Tyr21637Ter
XM_024453094.1:c.86406C>A (TTN)	XP_024308862.1:p.Tyr28802Ter
XM_024453095.1:c.86403C>A (TTN)	XP_024308863.1:p.Tyr28801Ter
XM_024453096.1:c.85836C>A (TTN)	XP_024308864.1:p.Tyr28612Ter
XM_024453097.1:c.83178C>A (TTN)	XP_024308865.1:p.Tyr27726Ter
XM_024453098.1:c.83097C>A (TTN)	XP_024308866.1:p.Tyr27699Ter
XM_024453099.1:c.64860C>A (TTN)	XP_024308867.1:p.Tyr21620Ter
XM_024453100.1:c.54714C>A (TTN)	XP_024308868.1:p.Tyr18238Ter