Canonical Allele Identifier: CA10612019

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332717
• ClinVar RCV Id: RCV000282995 ; RCV000307444 ; RCV000343579 ; RCV000393755 ; RCV000400682 ; RCV002365392
• dbSNP Id: rs886055228
• gnomAD v4: 2-178542346-A-G
• MyVariant Identifiers: chr2:g.179407073A>G (hg19) ; chr2:g.178542346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178542346A>G , CM000664.2:g.178542346A>G	GRCh38
NC_000002.11:g.179407073A>G , CM000664.1:g.179407073A>G	GRCh37
NC_000002.10:g.179115319A>G	NCBI36
NG_011618.3:g.293457T>C , LRG_391:g.293457T>C
NG_051363.1:g.24520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89706T>C (TTN)	ENSP00000343764.6:p.Tyr29902=
ENST00000342175.11:c.70791T>C (TTN)	ENSP00000340554.6:p.Tyr23597=
ENST00000359218.10:c.70590T>C (TTN)	ENSP00000352154.5:p.Tyr23530=
ENST00000342175.10:c.70791T>C (TTN)	ENSP00000340554.6:p.Tyr23597=
ENST00000342992.10:c.89706T>C (TTN)	ENSP00000343764.6:p.Tyr29902=
ENST00000359218.9:c.70590T>C (TTN)	ENSP00000352154.5:p.Tyr23530=
ENST00000460472.6:c.70215T>C (TTN)	ENSP00000434586.1:p.Tyr23405=
ENST00000589042.5:c.97410T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr32470=
ENST00000591111.5:c.92487T>C (TTN)	ENSP00000465570.1:p.Tyr30829=
ENST00000615779.4:c.92487T>C (TTN)	ENSP00000483597.1:p.Tyr30829=
NM_001256850.1:c.92487T>C (TTN)	NP_001243779.1:p.Tyr30829=
NM_001267550.2:c.97410T>C (TTN) MANE Select	NP_001254479.2:p.Tyr32470=
NM_003319.4:c.70215T>C (TTN)	NP_003310.4:p.Tyr23405=
NM_133378.4:c.89706T>C (TTN)	NP_596869.4:p.Tyr29902=
NM_133432.3:c.70590T>C (TTN)	NP_597676.3:p.Tyr23530=
NM_133437.4:c.70791T>C (TTN)	NP_597681.4:p.Tyr23597=
NR_038271.1:n.446+18710A>G (TTN-AS1)
NR_038272.1:n.2028A>G (TTN-AS1)
XM_011511729.1:c.96507T>C (TTN)	XP_011510031.1:p.Tyr32169=
XM_011511730.1:c.70401T>C (TTN)	XP_011510032.1:p.Tyr23467=
XM_011511731.1:c.70260T>C (TTN)	XP_011510033.1:p.Tyr23420=
XM_017004819.1:c.96303T>C (TTN)	XP_016860308.1:p.Tyr32101=
XM_017004820.1:c.91701T>C (TTN)	XP_016860309.1:p.Tyr30567=
XM_017004821.1:c.91698T>C (TTN)	XP_016860310.1:p.Tyr30566=
XM_017004822.1:c.88740T>C (TTN)	XP_016860311.1:p.Tyr29580=
XM_017004823.1:c.70356T>C (TTN)	XP_016860312.1:p.Tyr23452=
XM_024453094.1:c.91851T>C (TTN)	XP_024308862.1:p.Tyr30617=
XM_024453095.1:c.91848T>C (TTN)	XP_024308863.1:p.Tyr30616=
XM_024453096.1:c.91281T>C (TTN)	XP_024308864.1:p.Tyr30427=
XM_024453097.1:c.88623T>C (TTN)	XP_024308865.1:p.Tyr29541=
XM_024453098.1:c.88542T>C (TTN)	XP_024308866.1:p.Tyr29514=
XM_024453099.1:c.70305T>C (TTN)	XP_024308867.1:p.Tyr23435=
XM_024453100.1:c.60159T>C (TTN)	XP_024308868.1:p.Tyr20053=