Canonical Allele Identifier: CA430242137

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409199C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544472C>A , CM000664.2:g.178544472C>A	GRCh38
NC_000002.11:g.179409199C>A , CM000664.1:g.179409199C>A	GRCh37
NC_000002.10:g.179117445C>A	NCBI36
NG_011618.3:g.291331G>T , LRG_391:g.291331G>T
NG_051363.1:g.26646C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88053G>T (TTN)	ENSP00000343764.6:p.Val29351=
ENST00000342175.11:c.69138G>T (TTN)	ENSP00000340554.6:p.Val23046=
ENST00000359218.10:c.68937G>T (TTN)	ENSP00000352154.5:p.Val22979=
ENST00000342175.10:c.69138G>T (TTN)	ENSP00000340554.6:p.Val23046=
ENST00000342992.10:c.88053G>T (TTN)	ENSP00000343764.6:p.Val29351=
ENST00000359218.9:c.68937G>T (TTN)	ENSP00000352154.5:p.Val22979=
ENST00000460472.6:c.68562G>T (TTN)	ENSP00000434586.1:p.Val22854=
ENST00000589042.5:c.95757G>T (TTN) MANE Select	ENSP00000467141.1:p.Val31919=
ENST00000591111.5:c.90834G>T (TTN)	ENSP00000465570.1:p.Val30278=
ENST00000615779.4:c.90834G>T (TTN)	ENSP00000483597.1:p.Val30278=
NM_001256850.1:c.90834G>T (TTN)	NP_001243779.1:p.Val30278=
NM_001267550.2:c.95757G>T (TTN) MANE Select	NP_001254479.2:p.Val31919=
NM_003319.4:c.68562G>T (TTN)	NP_003310.4:p.Val22854=
NM_133378.4:c.88053G>T (TTN)	NP_596869.4:p.Val29351=
NM_133432.3:c.68937G>T (TTN)	NP_597676.3:p.Val22979=
NM_133437.4:c.69138G>T (TTN)	NP_597681.4:p.Val23046=
NR_038271.1:n.446+20836C>A (TTN-AS1)
NR_038272.1:n.2043+2111C>A (TTN-AS1)
XM_011511729.1:c.94854G>T (TTN)	XP_011510031.1:p.Val31618=
XM_011511730.1:c.68748G>T (TTN)	XP_011510032.1:p.Val22916=
XM_011511731.1:c.68607G>T (TTN)	XP_011510033.1:p.Val22869=
XM_017004819.1:c.94650G>T (TTN)	XP_016860308.1:p.Val31550=
XM_017004820.1:c.90048G>T (TTN)	XP_016860309.1:p.Val30016=
XM_017004821.1:c.90045G>T (TTN)	XP_016860310.1:p.Val30015=
XM_017004822.1:c.87087G>T (TTN)	XP_016860311.1:p.Val29029=
XM_017004823.1:c.68703G>T (TTN)	XP_016860312.1:p.Val22901=
XM_024453094.1:c.90198G>T (TTN)	XP_024308862.1:p.Val30066=
XM_024453095.1:c.90195G>T (TTN)	XP_024308863.1:p.Val30065=
XM_024453096.1:c.89628G>T (TTN)	XP_024308864.1:p.Val29876=
XM_024453097.1:c.86970G>T (TTN)	XP_024308865.1:p.Val28990=
XM_024453098.1:c.86889G>T (TTN)	XP_024308866.1:p.Val28963=
XM_024453099.1:c.68652G>T (TTN)	XP_024308867.1:p.Val22884=
XM_024453100.1:c.58506G>T (TTN)	XP_024308868.1:p.Val19502=