Canonical Allele Identifier: CA349426757

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466631
• ClinVar RCV Id: RCV001378158
• dbSNP Id: rs1553503201
• MyVariant Identifiers: chr2:g.179401731G>A (hg19) ; chr2:g.178537004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537004G>A , CM000664.2:g.178537004G>A	GRCh38
NC_000002.11:g.179401731G>A , CM000664.1:g.179401731G>A	GRCh37
NC_000002.10:g.179109977G>A	NCBI36
NG_011618.3:g.298799C>T , LRG_391:g.298799C>T
NG_051363.1:g.19178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92401C>T (TTN)	ENSP00000343764.6:p.Gln30801Ter
ENST00000342175.11:c.73486C>T (TTN)	ENSP00000340554.6:p.Gln24496Ter
ENST00000359218.10:c.73285C>T (TTN)	ENSP00000352154.5:p.Gln24429Ter
ENST00000342175.10:c.73486C>T (TTN)	ENSP00000340554.6:p.Gln24496Ter
ENST00000342992.10:c.92401C>T (TTN)	ENSP00000343764.6:p.Gln30801Ter
ENST00000359218.9:c.73285C>T (TTN)	ENSP00000352154.5:p.Gln24429Ter
ENST00000460472.6:c.72910C>T (TTN)	ENSP00000434586.1:p.Gln24304Ter
ENST00000589042.5:c.100105C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33369Ter
ENST00000591111.5:c.95182C>T (TTN)	ENSP00000465570.1:p.Gln31728Ter
ENST00000615779.4:c.95182C>T (TTN)	ENSP00000483597.1:p.Gln31728Ter
NM_001256850.1:c.95182C>T (TTN)	NP_001243779.1:p.Gln31728Ter
NM_001267550.2:c.100105C>T (TTN) MANE Select	NP_001254479.2:p.Gln33369Ter
NM_003319.4:c.72910C>T (TTN)	NP_003310.4:p.Gln24304Ter
NM_133378.4:c.92401C>T (TTN)	NP_596869.4:p.Gln30801Ter
NM_133432.3:c.73285C>T (TTN)	NP_597676.3:p.Gln24429Ter
NM_133437.4:c.73486C>T (TTN)	NP_597681.4:p.Gln24496Ter
NR_038271.1:n.446+13368G>A (TTN-AS1)
NR_038272.1:n.317-357G>A (TTN-AS1)
XM_011511729.1:c.99202C>T (TTN)	XP_011510031.1:p.Gln33068Ter
XM_011511730.1:c.73096C>T (TTN)	XP_011510032.1:p.Gln24366Ter
XM_011511731.1:c.72955C>T (TTN)	XP_011510033.1:p.Gln24319Ter
XM_017004819.1:c.98998C>T (TTN)	XP_016860308.1:p.Gln33000Ter
XM_017004820.1:c.94396C>T (TTN)	XP_016860309.1:p.Gln31466Ter
XM_017004821.1:c.94393C>T (TTN)	XP_016860310.1:p.Gln31465Ter
XM_017004822.1:c.91435C>T (TTN)	XP_016860311.1:p.Gln30479Ter
XM_017004823.1:c.73051C>T (TTN)	XP_016860312.1:p.Gln24351Ter
XM_024453094.1:c.94546C>T (TTN)	XP_024308862.1:p.Gln31516Ter
XM_024453095.1:c.94543C>T (TTN)	XP_024308863.1:p.Gln31515Ter
XM_024453096.1:c.93976C>T (TTN)	XP_024308864.1:p.Gln31326Ter
XM_024453097.1:c.91318C>T (TTN)	XP_024308865.1:p.Gln30440Ter
XM_024453098.1:c.91237C>T (TTN)	XP_024308866.1:p.Gln30413Ter
XM_024453099.1:c.73000C>T (TTN)	XP_024308867.1:p.Gln24334Ter
XM_024453100.1:c.62854C>T (TTN)	XP_024308868.1:p.Gln20952Ter