Canonical Allele Identifier: CA1991293

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs368046394
• ExAC: 2:179444392 T / C
• gnomAD v2: 2-179444392-T-C
• gnomAD v4: 2-178579665-T-C
• COSMIC: COSM4088032 ; COSM4088033 ; COSM4088034 ; COSM4088035
• MyVariant Identifiers: chr2:g.179444392T>C (hg19) ; chr2:g.178579665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579665T>C , CM000664.2:g.178579665T>C	GRCh38
NC_000002.11:g.179444392T>C , CM000664.1:g.179444392T>C	GRCh37
NC_000002.10:g.179152638T>C	NCBI36
NG_011618.3:g.256138A>G , LRG_391:g.256138A>G
NG_051363.1:g.61839T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59828A>G (TTN)	ENSP00000343764.6:p.Lys19943Arg
ENST00000342175.11:c.40913A>G (TTN)	ENSP00000340554.6:p.Lys13638Arg
ENST00000359218.10:c.40712A>G (TTN)	ENSP00000352154.5:p.Lys13571Arg
ENST00000342175.10:c.40913A>G (TTN)	ENSP00000340554.6:p.Lys13638Arg
ENST00000342992.10:c.59828A>G (TTN)	ENSP00000343764.6:p.Lys19943Arg
ENST00000359218.9:c.40712A>G (TTN)	ENSP00000352154.5:p.Lys13571Arg
ENST00000460472.6:c.40337A>G (TTN)	ENSP00000434586.1:p.Lys13446Arg
ENST00000589042.5:c.67532A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys22511Arg
ENST00000591111.5:c.62609A>G (TTN)	ENSP00000465570.1:p.Lys20870Arg
ENST00000615779.4:c.62609A>G (TTN)	ENSP00000483597.1:p.Lys20870Arg
NM_001256850.1:c.62609A>G (TTN)	NP_001243779.1:p.Lys20870Arg
NM_001267550.2:c.67532A>G (TTN) MANE Select	NP_001254479.2:p.Lys22511Arg
NM_003319.4:c.40337A>G (TTN)	NP_003310.4:p.Lys13446Arg
NM_133378.4:c.59828A>G (TTN)	NP_596869.4:p.Lys19943Arg
NM_133432.3:c.40712A>G (TTN)	NP_597676.3:p.Lys13571Arg
NM_133437.4:c.40913A>G (TTN)	NP_597681.4:p.Lys13638Arg
NR_038271.1:n.596+8216T>C (TTN-AS1)
NR_038272.1:n.2044-2907T>C (TTN-AS1)
XM_011511729.1:c.66629A>G (TTN)	XP_011510031.1:p.Lys22210Arg
XM_011511730.1:c.40523A>G (TTN)	XP_011510032.1:p.Lys13508Arg
XM_011511731.1:c.40382A>G (TTN)	XP_011510033.1:p.Lys13461Arg
XM_017004819.1:c.66425A>G (TTN)	XP_016860308.1:p.Lys22142Arg
XM_017004820.1:c.61823A>G (TTN)	XP_016860309.1:p.Lys20608Arg
XM_017004821.1:c.61820A>G (TTN)	XP_016860310.1:p.Lys20607Arg
XM_017004822.1:c.58862A>G (TTN)	XP_016860311.1:p.Lys19621Arg
XM_017004823.1:c.40478A>G (TTN)	XP_016860312.1:p.Lys13493Arg
XM_024453094.1:c.61973A>G (TTN)	XP_024308862.1:p.Lys20658Arg
XM_024453095.1:c.61970A>G (TTN)	XP_024308863.1:p.Lys20657Arg
XM_024453096.1:c.61403A>G (TTN)	XP_024308864.1:p.Lys20468Arg
XM_024453097.1:c.58745A>G (TTN)	XP_024308865.1:p.Lys19582Arg
XM_024453098.1:c.58664A>G (TTN)	XP_024308866.1:p.Lys19555Arg
XM_024453099.1:c.40427A>G (TTN)	XP_024308867.1:p.Lys13476Arg
XM_024453100.1:c.30281A>G (TTN)	XP_024308868.1:p.Lys10094Arg