Canonical Allele Identifier: CA1986851

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 413061
• ClinVar RCV Id: RCV001079018 ; RCV002365682 ; RCV003330700
• dbSNP Id: rs369405564
• ExAC: 2:179408995 G / A
• gnomAD v2: 2-179408995-G-A
• gnomAD v3: 2-178544268-G-A
• gnomAD v4: 2-178544268-G-A
• MyVariant Identifiers: chr2:g.179408995G>A (hg19) ; chr2:g.178544268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544268G>A , CM000664.2:g.178544268G>A	GRCh38
NC_000002.11:g.179408995G>A , CM000664.1:g.179408995G>A	GRCh37
NC_000002.10:g.179117241G>A	NCBI36
NG_011618.3:g.291535C>T , LRG_391:g.291535C>T
NG_051363.1:g.26442G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88257C>T (TTN)	ENSP00000343764.6:p.Ala29419=
ENST00000342175.11:c.69342C>T (TTN)	ENSP00000340554.6:p.Ala23114=
ENST00000359218.10:c.69141C>T (TTN)	ENSP00000352154.5:p.Ala23047=
ENST00000342175.10:c.69342C>T (TTN)	ENSP00000340554.6:p.Ala23114=
ENST00000342992.10:c.88257C>T (TTN)	ENSP00000343764.6:p.Ala29419=
ENST00000359218.9:c.69141C>T (TTN)	ENSP00000352154.5:p.Ala23047=
ENST00000460472.6:c.68766C>T (TTN)	ENSP00000434586.1:p.Ala22922=
ENST00000589042.5:c.95961C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala31987=
ENST00000591111.5:c.91038C>T (TTN)	ENSP00000465570.1:p.Ala30346=
ENST00000615779.4:c.91038C>T (TTN)	ENSP00000483597.1:p.Ala30346=
NM_001256850.1:c.91038C>T (TTN)	NP_001243779.1:p.Ala30346=
NM_001267550.2:c.95961C>T (TTN) MANE Select	NP_001254479.2:p.Ala31987=
NM_003319.4:c.68766C>T (TTN)	NP_003310.4:p.Ala22922=
NM_133378.4:c.88257C>T (TTN)	NP_596869.4:p.Ala29419=
NM_133432.3:c.69141C>T (TTN)	NP_597676.3:p.Ala23047=
NM_133437.4:c.69342C>T (TTN)	NP_597681.4:p.Ala23114=
NR_038271.1:n.446+20632G>A (TTN-AS1)
NR_038272.1:n.2043+1907G>A (TTN-AS1)
XM_011511729.1:c.95058C>T (TTN)	XP_011510031.1:p.Ala31686=
XM_011511730.1:c.68952C>T (TTN)	XP_011510032.1:p.Ala22984=
XM_011511731.1:c.68811C>T (TTN)	XP_011510033.1:p.Ala22937=
XM_017004819.1:c.94854C>T (TTN)	XP_016860308.1:p.Ala31618=
XM_017004820.1:c.90252C>T (TTN)	XP_016860309.1:p.Ala30084=
XM_017004821.1:c.90249C>T (TTN)	XP_016860310.1:p.Ala30083=
XM_017004822.1:c.87291C>T (TTN)	XP_016860311.1:p.Ala29097=
XM_017004823.1:c.68907C>T (TTN)	XP_016860312.1:p.Ala22969=
XM_024453094.1:c.90402C>T (TTN)	XP_024308862.1:p.Ala30134=
XM_024453095.1:c.90399C>T (TTN)	XP_024308863.1:p.Ala30133=
XM_024453096.1:c.89832C>T (TTN)	XP_024308864.1:p.Ala29944=
XM_024453097.1:c.87174C>T (TTN)	XP_024308865.1:p.Ala29058=
XM_024453098.1:c.87093C>T (TTN)	XP_024308866.1:p.Ala29031=
XM_024453099.1:c.68856C>T (TTN)	XP_024308867.1:p.Ala22952=
XM_024453100.1:c.58710C>T (TTN)	XP_024308868.1:p.Ala19570=