Canonical Allele Identifier: CA1990829

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs773301754
• ExAC: 2:179440712 T / C
• gnomAD v2: 2-179440712-T-C
• gnomAD v4: 2-178575985-T-C
• MyVariant Identifiers: chr2:g.179440712T>C (hg19) ; chr2:g.178575985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575985T>C , CM000664.2:g.178575985T>C	GRCh38
NC_000002.11:g.179440712T>C , CM000664.1:g.179440712T>C	GRCh37
NC_000002.10:g.179148958T>C	NCBI36
NG_011618.3:g.259818A>G , LRG_391:g.259818A>G
NG_051363.1:g.58159T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62443A>G (TTN)	ENSP00000343764.6:p.Ile20815Val
ENST00000342175.11:c.43528A>G (TTN)	ENSP00000340554.6:p.Ile14510Val
ENST00000359218.10:c.43327A>G (TTN)	ENSP00000352154.5:p.Ile14443Val
ENST00000342175.10:c.43528A>G (TTN)	ENSP00000340554.6:p.Ile14510Val
ENST00000342992.10:c.62443A>G (TTN)	ENSP00000343764.6:p.Ile20815Val
ENST00000359218.9:c.43327A>G (TTN)	ENSP00000352154.5:p.Ile14443Val
ENST00000460472.6:c.42952A>G (TTN)	ENSP00000434586.1:p.Ile14318Val
ENST00000589042.5:c.70147A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile23383Val
ENST00000591111.5:c.65224A>G (TTN)	ENSP00000465570.1:p.Ile21742Val
ENST00000615779.4:c.65224A>G (TTN)	ENSP00000483597.1:p.Ile21742Val
NM_001256850.1:c.65224A>G (TTN)	NP_001243779.1:p.Ile21742Val
NM_001267550.2:c.70147A>G (TTN) MANE Select	NP_001254479.2:p.Ile23383Val
NM_003319.4:c.42952A>G (TTN)	NP_003310.4:p.Ile14318Val
NM_133378.4:c.62443A>G (TTN)	NP_596869.4:p.Ile20815Val
NM_133432.3:c.43327A>G (TTN)	NP_597676.3:p.Ile14443Val
NM_133437.4:c.43528A>G (TTN)	NP_597681.4:p.Ile14510Val
NR_038271.1:n.596+4536T>C (TTN-AS1)
NR_038272.1:n.2044-6587T>C (TTN-AS1)
XM_011511729.1:c.69244A>G (TTN)	XP_011510031.1:p.Ile23082Val
XM_011511730.1:c.43138A>G (TTN)	XP_011510032.1:p.Ile14380Val
XM_011511731.1:c.42997A>G (TTN)	XP_011510033.1:p.Ile14333Val
XM_017004819.1:c.69040A>G (TTN)	XP_016860308.1:p.Ile23014Val
XM_017004820.1:c.64438A>G (TTN)	XP_016860309.1:p.Ile21480Val
XM_017004821.1:c.64435A>G (TTN)	XP_016860310.1:p.Ile21479Val
XM_017004822.1:c.61477A>G (TTN)	XP_016860311.1:p.Ile20493Val
XM_017004823.1:c.43093A>G (TTN)	XP_016860312.1:p.Ile14365Val
XM_024453094.1:c.64588A>G (TTN)	XP_024308862.1:p.Ile21530Val
XM_024453095.1:c.64585A>G (TTN)	XP_024308863.1:p.Ile21529Val
XM_024453096.1:c.64018A>G (TTN)	XP_024308864.1:p.Ile21340Val
XM_024453097.1:c.61360A>G (TTN)	XP_024308865.1:p.Ile20454Val
XM_024453098.1:c.61279A>G (TTN)	XP_024308866.1:p.Ile20427Val
XM_024453099.1:c.43042A>G (TTN)	XP_024308867.1:p.Ile14348Val
XM_024453100.1:c.32896A>G (TTN)	XP_024308868.1:p.Ile10966Val