Canonical Allele Identifier: CA1985735

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 287452
• ClinVar RCV Id: RCV000313155 ; RCV000726013 ; RCV001086233 ; RCV001798774 ; RCV002392808 ; RCV003930134
• dbSNP Id: rs375625664
• ExAC: 2:179398781 G / A
• gnomAD v2: 2-179398781-G-A
• gnomAD v3: 2-178534054-G-A
• gnomAD v4: 2-178534054-G-A
• MyVariant Identifiers: chr2:g.179398781G>A (hg19) ; chr2:g.178534054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534054G>A , CM000664.2:g.178534054G>A	GRCh38
NC_000002.11:g.179398781G>A , CM000664.1:g.179398781G>A	GRCh37
NC_000002.10:g.179107027G>A	NCBI36
NG_011618.3:g.301749C>T , LRG_391:g.301749C>T
NG_051363.1:g.16228G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94857C>T (TTN)	ENSP00000343764.6:p.Tyr31619=
ENST00000342175.11:c.75942C>T (TTN)	ENSP00000340554.6:p.Tyr25314=
ENST00000359218.10:c.75741C>T (TTN)	ENSP00000352154.5:p.Tyr25247=
ENST00000342175.10:c.75942C>T (TTN)	ENSP00000340554.6:p.Tyr25314=
ENST00000342992.10:c.94857C>T (TTN)	ENSP00000343764.6:p.Tyr31619=
ENST00000359218.9:c.75741C>T (TTN)	ENSP00000352154.5:p.Tyr25247=
ENST00000460472.6:c.75366C>T (TTN)	ENSP00000434586.1:p.Tyr25122=
ENST00000589042.5:c.102561C>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr34187=
ENST00000591111.5:c.97638C>T (TTN)	ENSP00000465570.1:p.Tyr32546=
ENST00000615779.4:c.97638C>T (TTN)	ENSP00000483597.1:p.Tyr32546=
NM_001256850.1:c.97638C>T (TTN)	NP_001243779.1:p.Tyr32546=
NM_001267550.2:c.102561C>T (TTN) MANE Select	NP_001254479.2:p.Tyr34187=
NM_003319.4:c.75366C>T (TTN)	NP_003310.4:p.Tyr25122=
NM_133378.4:c.94857C>T (TTN)	NP_596869.4:p.Tyr31619=
NM_133432.3:c.75741C>T (TTN)	NP_597676.3:p.Tyr25247=
NM_133437.4:c.75942C>T (TTN)	NP_597681.4:p.Tyr25314=
NR_038271.1:n.446+10418G>A (TTN-AS1)
NR_038272.1:n.220-1678G>A (TTN-AS1)
XM_011511729.1:c.101658C>T (TTN)	XP_011510031.1:p.Tyr33886=
XM_011511730.1:c.75552C>T (TTN)	XP_011510032.1:p.Tyr25184=
XM_011511731.1:c.75411C>T (TTN)	XP_011510033.1:p.Tyr25137=
XM_017004819.1:c.101454C>T (TTN)	XP_016860308.1:p.Tyr33818=
XM_017004820.1:c.96852C>T (TTN)	XP_016860309.1:p.Tyr32284=
XM_017004821.1:c.96849C>T (TTN)	XP_016860310.1:p.Tyr32283=
XM_017004822.1:c.93891C>T (TTN)	XP_016860311.1:p.Tyr31297=
XM_017004823.1:c.75507C>T (TTN)	XP_016860312.1:p.Tyr25169=
XM_024453094.1:c.97002C>T (TTN)	XP_024308862.1:p.Tyr32334=
XM_024453095.1:c.96999C>T (TTN)	XP_024308863.1:p.Tyr32333=
XM_024453096.1:c.96432C>T (TTN)	XP_024308864.1:p.Tyr32144=
XM_024453097.1:c.93774C>T (TTN)	XP_024308865.1:p.Tyr31258=
XM_024453098.1:c.93693C>T (TTN)	XP_024308866.1:p.Tyr31231=
XM_024453099.1:c.75456C>T (TTN)	XP_024308867.1:p.Tyr25152=
XM_024453100.1:c.65310C>T (TTN)	XP_024308868.1:p.Tyr21770=