Canonical Allele Identifier: CA291495

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 137819
• ClinVar RCV Id: RCV000125984 ; RCV000726930 ; RCV001087731 ; RCV001798423 ; RCV002399498
• dbSNP Id: rs548677252
• ExAC: 2:179396885 G / A
• gnomAD v2: 2-179396885-G-A
• gnomAD v3: 2-178532158-G-A
• gnomAD v4: 2-178532158-G-A
• MyVariant Identifiers: chr2:g.179396885G>A (hg19) ; chr2:g.178532158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532158G>A , CM000664.2:g.178532158G>A	GRCh38
NC_000002.11:g.179396885G>A , CM000664.1:g.179396885G>A	GRCh37
NC_000002.10:g.179105131G>A	NCBI36
NG_011618.3:g.303645C>T , LRG_391:g.303645C>T
NG_051363.1:g.14332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96753C>T (TTN)	ENSP00000343764.6:p.Tyr32251=
ENST00000342175.11:c.77838C>T (TTN)	ENSP00000340554.6:p.Tyr25946=
ENST00000359218.10:c.77637C>T (TTN)	ENSP00000352154.5:p.Tyr25879=
ENST00000342175.10:c.77838C>T (TTN)	ENSP00000340554.6:p.Tyr25946=
ENST00000342992.10:c.96753C>T (TTN)	ENSP00000343764.6:p.Tyr32251=
ENST00000359218.9:c.77637C>T (TTN)	ENSP00000352154.5:p.Tyr25879=
ENST00000460472.6:c.77262C>T (TTN)	ENSP00000434586.1:p.Tyr25754=
ENST00000589042.5:c.104457C>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr34819=
ENST00000591111.5:c.99534C>T (TTN)	ENSP00000465570.1:p.Tyr33178=
ENST00000615779.4:c.99534C>T (TTN)	ENSP00000483597.1:p.Tyr33178=
NM_001256850.1:c.99534C>T (TTN)	NP_001243779.1:p.Tyr33178=
NM_001267550.2:c.104457C>T (TTN) MANE Select	NP_001254479.2:p.Tyr34819=
NM_003319.4:c.77262C>T (TTN)	NP_003310.4:p.Tyr25754=
NM_133378.4:c.96753C>T (TTN)	NP_596869.4:p.Tyr32251=
NM_133432.3:c.77637C>T (TTN)	NP_597676.3:p.Tyr25879=
NM_133437.4:c.77838C>T (TTN)	NP_597681.4:p.Tyr25946=
NR_038271.1:n.446+8522G>A (TTN-AS1)
NR_038272.1:n.220-3574G>A (TTN-AS1)
XM_011511729.1:c.103554C>T (TTN)	XP_011510031.1:p.Tyr34518=
XM_011511730.1:c.77448C>T (TTN)	XP_011510032.1:p.Tyr25816=
XM_011511731.1:c.77307C>T (TTN)	XP_011510033.1:p.Tyr25769=
XM_017004819.1:c.103350C>T (TTN)	XP_016860308.1:p.Tyr34450=
XM_017004820.1:c.98748C>T (TTN)	XP_016860309.1:p.Tyr32916=
XM_017004821.1:c.98745C>T (TTN)	XP_016860310.1:p.Tyr32915=
XM_017004822.1:c.95787C>T (TTN)	XP_016860311.1:p.Tyr31929=
XM_017004823.1:c.77403C>T (TTN)	XP_016860312.1:p.Tyr25801=
XM_024453094.1:c.98898C>T (TTN)	XP_024308862.1:p.Tyr32966=
XM_024453095.1:c.98895C>T (TTN)	XP_024308863.1:p.Tyr32965=
XM_024453096.1:c.98328C>T (TTN)	XP_024308864.1:p.Tyr32776=
XM_024453097.1:c.95670C>T (TTN)	XP_024308865.1:p.Tyr31890=
XM_024453098.1:c.95589C>T (TTN)	XP_024308866.1:p.Tyr31863=
XM_024453099.1:c.77352C>T (TTN)	XP_024308867.1:p.Tyr25784=
XM_024453100.1:c.67206C>T (TTN)	XP_024308868.1:p.Tyr22402=