Canonical Allele Identifier: CA1992680

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs374280214
• ExAC: 2:179457453 A / G
• gnomAD v2: 2-179457453-A-G
• gnomAD v3: 2-178592726-A-G
• gnomAD v4: 2-178592726-A-G
• MyVariant Identifiers: chr2:g.179457453A>G (hg19) ; chr2:g.178592726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592726A>G , CM000664.2:g.178592726A>G	GRCh38
NC_000002.11:g.179457453A>G , CM000664.1:g.179457453A>G	GRCh37
NC_000002.10:g.179165699A>G	NCBI36
NG_011618.3:g.243077T>C , LRG_391:g.243077T>C
NG_051363.1:g.74900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51640+49T>C (TTN)	ENSP00000343764.6:n.51640+49T>C
ENST00000342175.11:c.32725+49T>C (TTN)	ENSP00000340554.6:n.32725+49T>C
ENST00000359218.10:c.32524+49T>C (TTN)	ENSP00000352154.5:n.32524+49T>C
ENST00000342175.10:c.32725+49T>C (TTN)	ENSP00000340554.6:n.32725+49T>C
ENST00000342992.10:c.51640+49T>C (TTN)	ENSP00000343764.6:n.51640+49T>C
ENST00000359218.9:c.32524+49T>C (TTN)	ENSP00000352154.5:n.32524+49T>C
ENST00000460472.6:c.32149+49T>C (TTN)	ENSP00000434586.1:n.32149+49T>C
ENST00000589042.5:c.59344+49T>C (TTN) MANE Select	ENSP00000467141.1:n.59344+49T>C
ENST00000591111.5:c.54421+49T>C (TTN)	ENSP00000465570.1:n.54421+49T>C
ENST00000615779.4:c.54421+49T>C (TTN)	ENSP00000483597.1:n.54421+49T>C
NM_001256850.1:c.54421+49T>C (TTN)	NP_001243779.1:n.54421+49T>C
NM_001267550.2:c.59344+49T>C (TTN) MANE Select	NP_001254479.2:n.59344+49T>C
NM_003319.4:c.32149+49T>C (TTN)	NP_003310.4:n.32149+49T>C
NM_133378.4:c.51640+49T>C (TTN)	NP_596869.4:n.51640+49T>C
NM_133432.3:c.32524+49T>C (TTN)	NP_597676.3:n.32524+49T>C
NM_133437.4:c.32725+49T>C (TTN)	NP_597681.4:n.32725+49T>C
NR_038271.1:n.597-4870A>G (TTN-AS1)
NR_038272.1:n.3364+1412A>G (TTN-AS1)
XM_011511729.1:c.58441+49T>C (TTN)	XP_011510031.1:n.58441+49T>C
XM_011511730.1:c.32335+49T>C (TTN)	XP_011510032.1:n.32335+49T>C
XM_011511731.1:c.32194+49T>C (TTN)	XP_011510033.1:n.32194+49T>C
XM_017004819.1:c.58237+49T>C (TTN)	XP_016860308.1:n.58237+49T>C
XM_017004820.1:c.53635+49T>C (TTN)	XP_016860309.1:n.53635+49T>C
XM_017004821.1:c.53632+49T>C (TTN)	XP_016860310.1:n.53632+49T>C
XM_017004822.1:c.50674+49T>C (TTN)	XP_016860311.1:n.50674+49T>C
XM_017004823.1:c.32290+49T>C (TTN)	XP_016860312.1:n.32290+49T>C
XM_024453094.1:c.53785+49T>C (TTN)	XP_024308862.1:n.53785+49T>C
XM_024453095.1:c.53782+49T>C (TTN)	XP_024308863.1:n.53782+49T>C
XM_024453096.1:c.53215+49T>C (TTN)	XP_024308864.1:n.53215+49T>C
XM_024453097.1:c.50557+49T>C (TTN)	XP_024308865.1:n.50557+49T>C
XM_024453098.1:c.50476+49T>C (TTN)	XP_024308866.1:n.50476+49T>C
XM_024453099.1:c.32239+49T>C (TTN)	XP_024308867.1:n.32239+49T>C
XM_024453100.1:c.22093+49T>C (TTN)	XP_024308868.1:n.22093+49T>C