Canonical Allele Identifier: CA430103995

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 669036
• ClinVar RCV Id: RCV000828021 ; RCV002363183 ; RCV003768579
• dbSNP Id: rs1208748409
• gnomAD v2: 2-179416367-A-G
• gnomAD v4: 2-178551640-A-G
• MyVariant Identifiers: chr2:g.179416367A>G (hg19) ; chr2:g.178551640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551640A>G , CM000664.2:g.178551640A>G	GRCh38
NC_000002.11:g.179416367A>G , CM000664.1:g.179416367A>G	GRCh37
NC_000002.10:g.179124613A>G	NCBI36
NG_011618.3:g.284163T>C , LRG_391:g.284163T>C
NG_051363.1:g.33814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83556T>C (TTN)	ENSP00000343764.6:p.Val27852=
ENST00000342175.11:c.64641T>C (TTN)	ENSP00000340554.6:p.Val21547=
ENST00000359218.10:c.64440T>C (TTN)	ENSP00000352154.5:p.Val21480=
ENST00000342175.10:c.64641T>C (TTN)	ENSP00000340554.6:p.Val21547=
ENST00000342992.10:c.83556T>C (TTN)	ENSP00000343764.6:p.Val27852=
ENST00000359218.9:c.64440T>C (TTN)	ENSP00000352154.5:p.Val21480=
ENST00000460472.6:c.64065T>C (TTN)	ENSP00000434586.1:p.Val21355=
ENST00000589042.5:c.91260T>C (TTN) MANE Select	ENSP00000467141.1:p.Val30420=
ENST00000591111.5:c.86337T>C (TTN)	ENSP00000465570.1:p.Val28779=
ENST00000615779.4:c.86337T>C (TTN)	ENSP00000483597.1:p.Val28779=
NM_001256850.1:c.86337T>C (TTN)	NP_001243779.1:p.Val28779=
NM_001267550.2:c.91260T>C (TTN) MANE Select	NP_001254479.2:p.Val30420=
NM_003319.4:c.64065T>C (TTN)	NP_003310.4:p.Val21355=
NM_133378.4:c.83556T>C (TTN)	NP_596869.4:p.Val27852=
NM_133432.3:c.64440T>C (TTN)	NP_597676.3:p.Val21480=
NM_133437.4:c.64641T>C (TTN)	NP_597681.4:p.Val21547=
NR_038271.1:n.447-19660A>G (TTN-AS1)
NR_038272.1:n.2043+9279A>G (TTN-AS1)
XM_011511729.1:c.90357T>C (TTN)	XP_011510031.1:p.Val30119=
XM_011511730.1:c.64251T>C (TTN)	XP_011510032.1:p.Val21417=
XM_011511731.1:c.64110T>C (TTN)	XP_011510033.1:p.Val21370=
XM_017004819.1:c.90153T>C (TTN)	XP_016860308.1:p.Val30051=
XM_017004820.1:c.85551T>C (TTN)	XP_016860309.1:p.Val28517=
XM_017004821.1:c.85548T>C (TTN)	XP_016860310.1:p.Val28516=
XM_017004822.1:c.82590T>C (TTN)	XP_016860311.1:p.Val27530=
XM_017004823.1:c.64206T>C (TTN)	XP_016860312.1:p.Val21402=
XM_024453094.1:c.85701T>C (TTN)	XP_024308862.1:p.Val28567=
XM_024453095.1:c.85698T>C (TTN)	XP_024308863.1:p.Val28566=
XM_024453096.1:c.85131T>C (TTN)	XP_024308864.1:p.Val28377=
XM_024453097.1:c.82473T>C (TTN)	XP_024308865.1:p.Val27491=
XM_024453098.1:c.82392T>C (TTN)	XP_024308866.1:p.Val27464=
XM_024453099.1:c.64155T>C (TTN)	XP_024308867.1:p.Val21385=
XM_024453100.1:c.54009T>C (TTN)	XP_024308868.1:p.Val18003=