Canonical Allele Identifier: CA430263251

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2147052
• ClinVar RCV Id: RCV003060701
• gnomAD v4: 2-178584487-C-A
• MyVariant Identifiers: chr2:g.179449214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584487C>A , CM000664.2:g.178584487C>A	GRCh38
NC_000002.11:g.179449214C>A , CM000664.1:g.179449214C>A	GRCh37
NC_000002.10:g.179157460C>A	NCBI36
NG_011618.3:g.251316G>T , LRG_391:g.251316G>T
NG_051363.1:g.66661C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57360G>T (TTN)	ENSP00000343764.6:p.Gly19120=
ENST00000342175.11:c.38445G>T (TTN)	ENSP00000340554.6:p.Gly12815=
ENST00000359218.10:c.38244G>T (TTN)	ENSP00000352154.5:p.Gly12748=
ENST00000342175.10:c.38445G>T (TTN)	ENSP00000340554.6:p.Gly12815=
ENST00000342992.10:c.57360G>T (TTN)	ENSP00000343764.6:p.Gly19120=
ENST00000359218.9:c.38244G>T (TTN)	ENSP00000352154.5:p.Gly12748=
ENST00000460472.6:c.37869G>T (TTN)	ENSP00000434586.1:p.Gly12623=
ENST00000589042.5:c.65064G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly21688=
ENST00000591111.5:c.60141G>T (TTN)	ENSP00000465570.1:p.Gly20047=
ENST00000615779.4:c.60141G>T (TTN)	ENSP00000483597.1:p.Gly20047=
NM_001256850.1:c.60141G>T (TTN)	NP_001243779.1:p.Gly20047=
NM_001267550.2:c.65064G>T (TTN) MANE Select	NP_001254479.2:p.Gly21688=
NM_003319.4:c.37869G>T (TTN)	NP_003310.4:p.Gly12623=
NM_133378.4:c.57360G>T (TTN)	NP_596869.4:p.Gly19120=
NM_133432.3:c.38244G>T (TTN)	NP_597676.3:p.Gly12748=
NM_133437.4:c.38445G>T (TTN)	NP_597681.4:p.Gly12815=
NR_038271.1:n.596+13038C>A (TTN-AS1)
NR_038272.1:n.2768-86C>A (TTN-AS1)
XM_011511729.1:c.64161G>T (TTN)	XP_011510031.1:p.Gly21387=
XM_011511730.1:c.38055G>T (TTN)	XP_011510032.1:p.Gly12685=
XM_011511731.1:c.37914G>T (TTN)	XP_011510033.1:p.Gly12638=
XM_017004819.1:c.63957G>T (TTN)	XP_016860308.1:p.Gly21319=
XM_017004820.1:c.59355G>T (TTN)	XP_016860309.1:p.Gly19785=
XM_017004821.1:c.59352G>T (TTN)	XP_016860310.1:p.Gly19784=
XM_017004822.1:c.56394G>T (TTN)	XP_016860311.1:p.Gly18798=
XM_017004823.1:c.38010G>T (TTN)	XP_016860312.1:p.Gly12670=
XM_024453094.1:c.59505G>T (TTN)	XP_024308862.1:p.Gly19835=
XM_024453095.1:c.59502G>T (TTN)	XP_024308863.1:p.Gly19834=
XM_024453096.1:c.58935G>T (TTN)	XP_024308864.1:p.Gly19645=
XM_024453097.1:c.56277G>T (TTN)	XP_024308865.1:p.Gly18759=
XM_024453098.1:c.56196G>T (TTN)	XP_024308866.1:p.Gly18732=
XM_024453099.1:c.37959G>T (TTN)	XP_024308867.1:p.Gly12653=
XM_024453100.1:c.27813G>T (TTN)	XP_024308868.1:p.Gly9271=