Canonical Allele Identifier: CA430234448

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1963673
• ClinVar RCV Id: RCV002716074
• dbSNP Id: rs1333586659
• gnomAD v2: 2-179392327-G-A
• MyVariant Identifiers: chr2:g.179392327G>A (hg19) ; chr2:g.178527600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527600G>A , CM000664.2:g.178527600G>A	GRCh38
NC_000002.11:g.179392327G>A , CM000664.1:g.179392327G>A	GRCh37
NC_000002.10:g.179100573G>A	NCBI36
NG_011618.3:g.308203C>T , LRG_391:g.308203C>T
NG_051363.1:g.9774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99822C>T (TTN)	ENSP00000343764.6:p.Ser33274=
ENST00000342175.11:c.80907C>T (TTN)	ENSP00000340554.6:p.Ser26969=
ENST00000359218.10:c.80706C>T (TTN)	ENSP00000352154.5:p.Ser26902=
ENST00000342175.10:c.80907C>T (TTN)	ENSP00000340554.6:p.Ser26969=
ENST00000342992.10:c.99822C>T (TTN)	ENSP00000343764.6:p.Ser33274=
ENST00000359218.9:c.80706C>T (TTN)	ENSP00000352154.5:p.Ser26902=
ENST00000460472.6:c.80331C>T (TTN)	ENSP00000434586.1:p.Ser26777=
ENST00000589042.5:c.107526C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35842=
ENST00000591111.5:c.102603C>T (TTN)	ENSP00000465570.1:p.Ser34201=
ENST00000615779.4:c.102603C>T (TTN)	ENSP00000483597.1:p.Ser34201=
NM_001256850.1:c.102603C>T (TTN)	NP_001243779.1:p.Ser34201=
NM_001267550.2:c.107526C>T (TTN) MANE Select	NP_001254479.2:p.Ser35842=
NM_003319.4:c.80331C>T (TTN)	NP_003310.4:p.Ser26777=
NM_133378.4:c.99822C>T (TTN)	NP_596869.4:p.Ser33274=
NM_133432.3:c.80706C>T (TTN)	NP_597676.3:p.Ser26902=
NM_133437.4:c.80907C>T (TTN)	NP_597681.4:p.Ser26969=
NR_038271.1:n.446+3964G>A (TTN-AS1)
NR_038272.1:n.219+3964G>A (TTN-AS1)
XM_011511729.1:c.106623C>T (TTN)	XP_011510031.1:p.Ser35541=
XM_011511730.1:c.80517C>T (TTN)	XP_011510032.1:p.Ser26839=
XM_011511731.1:c.80376C>T (TTN)	XP_011510033.1:p.Ser26792=
XM_017004819.1:c.106419C>T (TTN)	XP_016860308.1:p.Ser35473=
XM_017004820.1:c.101817C>T (TTN)	XP_016860309.1:p.Ser33939=
XM_017004821.1:c.101814C>T (TTN)	XP_016860310.1:p.Ser33938=
XM_017004822.1:c.98856C>T (TTN)	XP_016860311.1:p.Ser32952=
XM_017004823.1:c.80472C>T (TTN)	XP_016860312.1:p.Ser26824=
XM_024453094.1:c.101967C>T (TTN)	XP_024308862.1:p.Ser33989=
XM_024453095.1:c.101964C>T (TTN)	XP_024308863.1:p.Ser33988=
XM_024453096.1:c.101397C>T (TTN)	XP_024308864.1:p.Ser33799=
XM_024453097.1:c.98739C>T (TTN)	XP_024308865.1:p.Ser32913=
XM_024453098.1:c.98658C>T (TTN)	XP_024308866.1:p.Ser32886=
XM_024453099.1:c.80421C>T (TTN)	XP_024308867.1:p.Ser26807=
XM_024453100.1:c.70275C>T (TTN)	XP_024308868.1:p.Ser23425=