Canonical Allele Identifier: CA184032

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179240
• ClinVar RCV Id: RCV000156027 ; RCV003764962
• dbSNP Id: rs727504732
• MyVariant Identifiers: chr2:g.179476904A>C (hg19) ; chr2:g.178612177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612177A>C , CM000664.2:g.178612177A>C	GRCh38
NC_000002.11:g.179476904A>C , CM000664.1:g.179476904A>C	GRCh37
NC_000002.10:g.179185149A>C	NCBI36
NG_011618.3:g.223626T>G , LRG_391:g.223626T>G
NG_051363.1:g.94351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42545-15T>G (TTN)	ENSP00000343764.6:n.42545-15T>G
ENST00000342175.11:c.23630-15T>G (TTN)	ENSP00000340554.6:n.23630-15T>G
ENST00000359218.10:c.23429-15T>G (TTN)	ENSP00000352154.5:n.23429-15T>G
ENST00000342175.10:c.23630-15T>G (TTN)	ENSP00000340554.6:n.23630-15T>G
ENST00000342992.10:c.42545-15T>G (TTN)	ENSP00000343764.6:n.42545-15T>G
ENST00000359218.9:c.23429-15T>G (TTN)	ENSP00000352154.5:n.23429-15T>G
ENST00000460472.6:c.23054-15T>G (TTN)	ENSP00000434586.1:n.23054-15T>G
ENST00000589042.5:c.50249-15T>G (TTN) MANE Select	ENSP00000467141.1:n.50249-15T>G
ENST00000591111.5:c.45326-15T>G (TTN)	ENSP00000465570.1:n.45326-15T>G
ENST00000615779.4:c.45326-15T>G (TTN)	ENSP00000483597.1:n.45326-15T>G
NM_001256850.1:c.45326-15T>G (TTN)	NP_001243779.1:n.45326-15T>G
NM_001267550.2:c.50249-15T>G (TTN) MANE Select	NP_001254479.2:n.50249-15T>G
NM_003319.4:c.23054-15T>G (TTN)	NP_003310.4:n.23054-15T>G
NM_133378.4:c.42545-15T>G (TTN)	NP_596869.4:n.42545-15T>G
NM_133432.3:c.23429-15T>G (TTN)	NP_597676.3:n.23429-15T>G
NM_133437.4:c.23630-15T>G (TTN)	NP_597681.4:n.23630-15T>G
NR_038271.1:n.783-1858A>C (TTN-AS1)
XM_011511729.1:c.49346-15T>G (TTN)	XP_011510031.1:n.49346-15T>G
XM_011511730.1:c.23240-15T>G (TTN)	XP_011510032.1:n.23240-15T>G
XM_011511731.1:c.23099-15T>G (TTN)	XP_011510033.1:n.23099-15T>G
XM_017004819.1:c.49142-15T>G (TTN)	XP_016860308.1:n.49142-15T>G
XM_017004820.1:c.44540-15T>G (TTN)	XP_016860309.1:n.44540-15T>G
XM_017004821.1:c.44537-15T>G (TTN)	XP_016860310.1:n.44537-15T>G
XM_017004822.1:c.41579-15T>G (TTN)	XP_016860311.1:n.41579-15T>G
XM_017004823.1:c.23195-15T>G (TTN)	XP_016860312.1:n.23195-15T>G
XM_024453094.1:c.44690-15T>G (TTN)	XP_024308862.1:n.44690-15T>G
XM_024453095.1:c.44687-15T>G (TTN)	XP_024308863.1:n.44687-15T>G
XM_024453096.1:c.44120-15T>G (TTN)	XP_024308864.1:n.44120-15T>G
XM_024453097.1:c.41462-15T>G (TTN)	XP_024308865.1:n.41462-15T>G
XM_024453098.1:c.41381-15T>G (TTN)	XP_024308866.1:n.41381-15T>G
XM_024453099.1:c.23144-15T>G (TTN)	XP_024308867.1:n.23144-15T>G
XM_024453100.1:c.12998-15T>G (TTN)	XP_024308868.1:n.12998-15T>G