Canonical Allele Identifier: CA349543218

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466729C>A (hg19) ; chr2:g.178602002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602002C>A , CM000664.2:g.178602002C>A	GRCh38
NC_000002.11:g.179466729C>A , CM000664.1:g.179466729C>A	GRCh37
NC_000002.10:g.179174974C>A	NCBI36
NG_011618.3:g.233801G>T , LRG_391:g.233801G>T
NG_051363.1:g.84176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47565G>T (TTN)	ENSP00000343764.6:p.Lys15855Asn
ENST00000342175.11:c.28650G>T (TTN)	ENSP00000340554.6:p.Lys9550Asn
ENST00000359218.10:c.28449G>T (TTN)	ENSP00000352154.5:p.Lys9483Asn
ENST00000342175.10:c.28650G>T (TTN)	ENSP00000340554.6:p.Lys9550Asn
ENST00000342992.10:c.47565G>T (TTN)	ENSP00000343764.6:p.Lys15855Asn
ENST00000359218.9:c.28449G>T (TTN)	ENSP00000352154.5:p.Lys9483Asn
ENST00000460472.6:c.28074G>T (TTN)	ENSP00000434586.1:p.Lys9358Asn
ENST00000589042.5:c.55269G>T (TTN) MANE Select	ENSP00000467141.1:p.Lys18423Asn
ENST00000591111.5:c.50346G>T (TTN)	ENSP00000465570.1:p.Lys16782Asn
ENST00000615779.4:c.50346G>T (TTN)	ENSP00000483597.1:p.Lys16782Asn
NM_001256850.1:c.50346G>T (TTN)	NP_001243779.1:p.Lys16782Asn
NM_001267550.2:c.55269G>T (TTN) MANE Select	NP_001254479.2:p.Lys18423Asn
NM_003319.4:c.28074G>T (TTN)	NP_003310.4:p.Lys9358Asn
NM_133378.4:c.47565G>T (TTN)	NP_596869.4:p.Lys15855Asn
NM_133432.3:c.28449G>T (TTN)	NP_597676.3:p.Lys9483Asn
NM_133437.4:c.28650G>T (TTN)	NP_597681.4:p.Lys9550Asn
NR_038271.1:n.682+4321C>A (TTN-AS1)
NR_038272.1:n.3917+1335C>A (TTN-AS1)
XM_011511729.1:c.54366G>T (TTN)	XP_011510031.1:p.Lys18122Asn
XM_011511730.1:c.28260G>T (TTN)	XP_011510032.1:p.Lys9420Asn
XM_011511731.1:c.28119G>T (TTN)	XP_011510033.1:p.Lys9373Asn
XM_017004819.1:c.54162G>T (TTN)	XP_016860308.1:p.Lys18054Asn
XM_017004820.1:c.49560G>T (TTN)	XP_016860309.1:p.Lys16520Asn
XM_017004821.1:c.49557G>T (TTN)	XP_016860310.1:p.Lys16519Asn
XM_017004822.1:c.46599G>T (TTN)	XP_016860311.1:p.Lys15533Asn
XM_017004823.1:c.28215G>T (TTN)	XP_016860312.1:p.Lys9405Asn
XM_024453094.1:c.49710G>T (TTN)	XP_024308862.1:p.Lys16570Asn
XM_024453095.1:c.49707G>T (TTN)	XP_024308863.1:p.Lys16569Asn
XM_024453096.1:c.49140G>T (TTN)	XP_024308864.1:p.Lys16380Asn
XM_024453097.1:c.46482G>T (TTN)	XP_024308865.1:p.Lys15494Asn
XM_024453098.1:c.46401G>T (TTN)	XP_024308866.1:p.Lys15467Asn
XM_024453099.1:c.28164G>T (TTN)	XP_024308867.1:p.Lys9388Asn
XM_024453100.1:c.18018G>T (TTN)	XP_024308868.1:p.Lys6006Asn