Canonical Allele Identifier: CA349456823

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409106C>A (hg19) ; chr2:g.178544379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544379C>A , CM000664.2:g.178544379C>A	GRCh38
NC_000002.11:g.179409106C>A , CM000664.1:g.179409106C>A	GRCh37
NC_000002.10:g.179117352C>A	NCBI36
NG_011618.3:g.291424G>T , LRG_391:g.291424G>T
NG_051363.1:g.26553C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88146G>T (TTN)	ENSP00000343764.6:p.Glu29382Asp
ENST00000342175.11:c.69231G>T (TTN)	ENSP00000340554.6:p.Glu23077Asp
ENST00000359218.10:c.69030G>T (TTN)	ENSP00000352154.5:p.Glu23010Asp
ENST00000342175.10:c.69231G>T (TTN)	ENSP00000340554.6:p.Glu23077Asp
ENST00000342992.10:c.88146G>T (TTN)	ENSP00000343764.6:p.Glu29382Asp
ENST00000359218.9:c.69030G>T (TTN)	ENSP00000352154.5:p.Glu23010Asp
ENST00000460472.6:c.68655G>T (TTN)	ENSP00000434586.1:p.Glu22885Asp
ENST00000589042.5:c.95850G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31950Asp
ENST00000591111.5:c.90927G>T (TTN)	ENSP00000465570.1:p.Glu30309Asp
ENST00000615779.4:c.90927G>T (TTN)	ENSP00000483597.1:p.Glu30309Asp
NM_001256850.1:c.90927G>T (TTN)	NP_001243779.1:p.Glu30309Asp
NM_001267550.2:c.95850G>T (TTN) MANE Select	NP_001254479.2:p.Glu31950Asp
NM_003319.4:c.68655G>T (TTN)	NP_003310.4:p.Glu22885Asp
NM_133378.4:c.88146G>T (TTN)	NP_596869.4:p.Glu29382Asp
NM_133432.3:c.69030G>T (TTN)	NP_597676.3:p.Glu23010Asp
NM_133437.4:c.69231G>T (TTN)	NP_597681.4:p.Glu23077Asp
NR_038271.1:n.446+20743C>A (TTN-AS1)
NR_038272.1:n.2043+2018C>A (TTN-AS1)
XM_011511729.1:c.94947G>T (TTN)	XP_011510031.1:p.Glu31649Asp
XM_011511730.1:c.68841G>T (TTN)	XP_011510032.1:p.Glu22947Asp
XM_011511731.1:c.68700G>T (TTN)	XP_011510033.1:p.Glu22900Asp
XM_017004819.1:c.94743G>T (TTN)	XP_016860308.1:p.Glu31581Asp
XM_017004820.1:c.90141G>T (TTN)	XP_016860309.1:p.Glu30047Asp
XM_017004821.1:c.90138G>T (TTN)	XP_016860310.1:p.Glu30046Asp
XM_017004822.1:c.87180G>T (TTN)	XP_016860311.1:p.Glu29060Asp
XM_017004823.1:c.68796G>T (TTN)	XP_016860312.1:p.Glu22932Asp
XM_024453094.1:c.90291G>T (TTN)	XP_024308862.1:p.Glu30097Asp
XM_024453095.1:c.90288G>T (TTN)	XP_024308863.1:p.Glu30096Asp
XM_024453096.1:c.89721G>T (TTN)	XP_024308864.1:p.Glu29907Asp
XM_024453097.1:c.87063G>T (TTN)	XP_024308865.1:p.Glu29021Asp
XM_024453098.1:c.86982G>T (TTN)	XP_024308866.1:p.Glu28994Asp
XM_024453099.1:c.68745G>T (TTN)	XP_024308867.1:p.Glu22915Asp
XM_024453100.1:c.58599G>T (TTN)	XP_024308868.1:p.Glu19533Asp