Canonical Allele Identifier: CA430260399

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1329180
• ClinVar RCV Id: RCV001799223
• dbSNP Id: rs2154175717
• gnomAD v4: 2-178579673-G-A
• MyVariant Identifiers: chr2:g.179444400G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579673G>A , CM000664.2:g.178579673G>A	GRCh38
NC_000002.11:g.179444400G>A , CM000664.1:g.179444400G>A	GRCh37
NC_000002.10:g.179152646G>A	NCBI36
NG_011618.3:g.256130C>T , LRG_391:g.256130C>T
NG_051363.1:g.61847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59820C>T (TTN)	ENSP00000343764.6:p.Tyr19940=
ENST00000342175.11:c.40905C>T (TTN)	ENSP00000340554.6:p.Tyr13635=
ENST00000359218.10:c.40704C>T (TTN)	ENSP00000352154.5:p.Tyr13568=
ENST00000342175.10:c.40905C>T (TTN)	ENSP00000340554.6:p.Tyr13635=
ENST00000342992.10:c.59820C>T (TTN)	ENSP00000343764.6:p.Tyr19940=
ENST00000359218.9:c.40704C>T (TTN)	ENSP00000352154.5:p.Tyr13568=
ENST00000460472.6:c.40329C>T (TTN)	ENSP00000434586.1:p.Tyr13443=
ENST00000589042.5:c.67524C>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr22508=
ENST00000591111.5:c.62601C>T (TTN)	ENSP00000465570.1:p.Tyr20867=
ENST00000615779.4:c.62601C>T (TTN)	ENSP00000483597.1:p.Tyr20867=
NM_001256850.1:c.62601C>T (TTN)	NP_001243779.1:p.Tyr20867=
NM_001267550.2:c.67524C>T (TTN) MANE Select	NP_001254479.2:p.Tyr22508=
NM_003319.4:c.40329C>T (TTN)	NP_003310.4:p.Tyr13443=
NM_133378.4:c.59820C>T (TTN)	NP_596869.4:p.Tyr19940=
NM_133432.3:c.40704C>T (TTN)	NP_597676.3:p.Tyr13568=
NM_133437.4:c.40905C>T (TTN)	NP_597681.4:p.Tyr13635=
NR_038271.1:n.596+8224G>A (TTN-AS1)
NR_038272.1:n.2044-2899G>A (TTN-AS1)
XM_011511729.1:c.66621C>T (TTN)	XP_011510031.1:p.Tyr22207=
XM_011511730.1:c.40515C>T (TTN)	XP_011510032.1:p.Tyr13505=
XM_011511731.1:c.40374C>T (TTN)	XP_011510033.1:p.Tyr13458=
XM_017004819.1:c.66417C>T (TTN)	XP_016860308.1:p.Tyr22139=
XM_017004820.1:c.61815C>T (TTN)	XP_016860309.1:p.Tyr20605=
XM_017004821.1:c.61812C>T (TTN)	XP_016860310.1:p.Tyr20604=
XM_017004822.1:c.58854C>T (TTN)	XP_016860311.1:p.Tyr19618=
XM_017004823.1:c.40470C>T (TTN)	XP_016860312.1:p.Tyr13490=
XM_024453094.1:c.61965C>T (TTN)	XP_024308862.1:p.Tyr20655=
XM_024453095.1:c.61962C>T (TTN)	XP_024308863.1:p.Tyr20654=
XM_024453096.1:c.61395C>T (TTN)	XP_024308864.1:p.Tyr20465=
XM_024453097.1:c.58737C>T (TTN)	XP_024308865.1:p.Tyr19579=
XM_024453098.1:c.58656C>T (TTN)	XP_024308866.1:p.Tyr19552=
XM_024453099.1:c.40419C>T (TTN)	XP_024308867.1:p.Tyr13473=
XM_024453100.1:c.30273C>T (TTN)	XP_024308868.1:p.Tyr10091=