Canonical Allele Identifier: CA1984930

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs768799760
• ExAC: 2:179392332 T / G
• gnomAD v2: 2-179392332-T-G
• MyVariant Identifiers: chr2:g.179392332T>G (hg19) ; chr2:g.178527605T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527605T>G , CM000664.2:g.178527605T>G	GRCh38
NC_000002.11:g.179392332T>G , CM000664.1:g.179392332T>G	GRCh37
NC_000002.10:g.179100578T>G	NCBI36
NG_011618.3:g.308198A>C , LRG_391:g.308198A>C
NG_051363.1:g.9779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99817A>C (TTN)	ENSP00000343764.6:p.Ser33273Arg
ENST00000342175.11:c.80902A>C (TTN)	ENSP00000340554.6:p.Ser26968Arg
ENST00000359218.10:c.80701A>C (TTN)	ENSP00000352154.5:p.Ser26901Arg
ENST00000342175.10:c.80902A>C (TTN)	ENSP00000340554.6:p.Ser26968Arg
ENST00000342992.10:c.99817A>C (TTN)	ENSP00000343764.6:p.Ser33273Arg
ENST00000359218.9:c.80701A>C (TTN)	ENSP00000352154.5:p.Ser26901Arg
ENST00000460472.6:c.80326A>C (TTN)	ENSP00000434586.1:p.Ser26776Arg
ENST00000589042.5:c.107521A>C (TTN) MANE Select	ENSP00000467141.1:p.Ser35841Arg
ENST00000591111.5:c.102598A>C (TTN)	ENSP00000465570.1:p.Ser34200Arg
ENST00000615779.4:c.102598A>C (TTN)	ENSP00000483597.1:p.Ser34200Arg
NM_001256850.1:c.102598A>C (TTN)	NP_001243779.1:p.Ser34200Arg
NM_001267550.2:c.107521A>C (TTN) MANE Select	NP_001254479.2:p.Ser35841Arg
NM_003319.4:c.80326A>C (TTN)	NP_003310.4:p.Ser26776Arg
NM_133378.4:c.99817A>C (TTN)	NP_596869.4:p.Ser33273Arg
NM_133432.3:c.80701A>C (TTN)	NP_597676.3:p.Ser26901Arg
NM_133437.4:c.80902A>C (TTN)	NP_597681.4:p.Ser26968Arg
NR_038271.1:n.446+3969T>G (TTN-AS1)
NR_038272.1:n.219+3969T>G (TTN-AS1)
XM_011511729.1:c.106618A>C (TTN)	XP_011510031.1:p.Ser35540Arg
XM_011511730.1:c.80512A>C (TTN)	XP_011510032.1:p.Ser26838Arg
XM_011511731.1:c.80371A>C (TTN)	XP_011510033.1:p.Ser26791Arg
XM_017004819.1:c.106414A>C (TTN)	XP_016860308.1:p.Ser35472Arg
XM_017004820.1:c.101812A>C (TTN)	XP_016860309.1:p.Ser33938Arg
XM_017004821.1:c.101809A>C (TTN)	XP_016860310.1:p.Ser33937Arg
XM_017004822.1:c.98851A>C (TTN)	XP_016860311.1:p.Ser32951Arg
XM_017004823.1:c.80467A>C (TTN)	XP_016860312.1:p.Ser26823Arg
XM_024453094.1:c.101962A>C (TTN)	XP_024308862.1:p.Ser33988Arg
XM_024453095.1:c.101959A>C (TTN)	XP_024308863.1:p.Ser33987Arg
XM_024453096.1:c.101392A>C (TTN)	XP_024308864.1:p.Ser33798Arg
XM_024453097.1:c.98734A>C (TTN)	XP_024308865.1:p.Ser32912Arg
XM_024453098.1:c.98653A>C (TTN)	XP_024308866.1:p.Ser32885Arg
XM_024453099.1:c.80416A>C (TTN)	XP_024308867.1:p.Ser26806Arg
XM_024453100.1:c.70270A>C (TTN)	XP_024308868.1:p.Ser23424Arg