Canonical Allele Identifier: CA16603990

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 379823
• ClinVar RCV Id: RCV000433360 ; RCV003766216
• dbSNP Id: rs1057520744
• MyVariant Identifiers: chr2:g.179419590A>C (hg19) ; chr2:g.178554863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554863A>C , CM000664.2:g.178554863A>C	GRCh38
NC_000002.11:g.179419590A>C , CM000664.1:g.179419590A>C	GRCh37
NC_000002.10:g.179127836A>C	NCBI36
NG_011618.3:g.280940T>G , LRG_391:g.280940T>G
NG_051363.1:g.37037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80890+2T>G (TTN)	ENSP00000343764.6:n.80890+2T>G
ENST00000342175.11:c.61975+2T>G (TTN)	ENSP00000340554.6:n.61975+2T>G
ENST00000359218.10:c.61774+2T>G (TTN)	ENSP00000352154.5:n.61774+2T>G
ENST00000342175.10:c.61975+2T>G (TTN)	ENSP00000340554.6:n.61975+2T>G
ENST00000342992.10:c.80890+2T>G (TTN)	ENSP00000343764.6:n.80890+2T>G
ENST00000359218.9:c.61774+2T>G (TTN)	ENSP00000352154.5:n.61774+2T>G
ENST00000460472.6:c.61399+2T>G (TTN)	ENSP00000434586.1:n.61399+2T>G
ENST00000589042.5:c.88594+2T>G (TTN) MANE Select	ENSP00000467141.1:n.88594+2T>G
ENST00000591111.5:c.83671+2T>G (TTN)	ENSP00000465570.1:n.83671+2T>G
ENST00000615779.4:c.83671+2T>G (TTN)	ENSP00000483597.1:n.83671+2T>G
NM_001256850.1:c.83671+2T>G (TTN)	NP_001243779.1:n.83671+2T>G
NM_001267550.2:c.88594+2T>G (TTN) MANE Select	NP_001254479.2:n.88594+2T>G
NM_003319.4:c.61399+2T>G (TTN)	NP_003310.4:n.61399+2T>G
NM_133378.4:c.80890+2T>G (TTN)	NP_596869.4:n.80890+2T>G
NM_133432.3:c.61774+2T>G (TTN)	NP_597676.3:n.61774+2T>G
NM_133437.4:c.61975+2T>G (TTN)	NP_597681.4:n.61975+2T>G
NR_038271.1:n.447-16437A>C (TTN-AS1)
NR_038272.1:n.2043+12502A>C (TTN-AS1)
XM_011511729.1:c.87691+2T>G (TTN)	XP_011510031.1:n.87691+2T>G
XM_011511730.1:c.61585+2T>G (TTN)	XP_011510032.1:n.61585+2T>G
XM_011511731.1:c.61444+2T>G (TTN)	XP_011510033.1:n.61444+2T>G
XM_017004819.1:c.87487+2T>G (TTN)	XP_016860308.1:n.87487+2T>G
XM_017004820.1:c.82885+2T>G (TTN)	XP_016860309.1:n.82885+2T>G
XM_017004821.1:c.82882+2T>G (TTN)	XP_016860310.1:n.82882+2T>G
XM_017004822.1:c.79924+2T>G (TTN)	XP_016860311.1:n.79924+2T>G
XM_017004823.1:c.61540+2T>G (TTN)	XP_016860312.1:n.61540+2T>G
XM_024453094.1:c.83035+2T>G (TTN)	XP_024308862.1:n.83035+2T>G
XM_024453095.1:c.83032+2T>G (TTN)	XP_024308863.1:n.83032+2T>G
XM_024453096.1:c.82465+2T>G (TTN)	XP_024308864.1:n.82465+2T>G
XM_024453097.1:c.79807+2T>G (TTN)	XP_024308865.1:n.79807+2T>G
XM_024453098.1:c.79726+2T>G (TTN)	XP_024308866.1:n.79726+2T>G
XM_024453099.1:c.61489+2T>G (TTN)	XP_024308867.1:n.61489+2T>G
XM_024453100.1:c.51343+2T>G (TTN)	XP_024308868.1:n.51343+2T>G