Canonical Allele Identifier: CA349422885

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2076235
• ClinVar RCV Id: RCV002979173
• dbSNP Id: rs1691172442
• gnomAD v3: 2-178535804-G-A
• gnomAD v4: 2-178535804-G-A
• MyVariant Identifiers: chr2:g.179400531G>A (hg19) ; chr2:g.178535804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535804G>A , CM000664.2:g.178535804G>A	GRCh38
NC_000002.11:g.179400531G>A , CM000664.1:g.179400531G>A	GRCh37
NC_000002.10:g.179108777G>A	NCBI36
NG_011618.3:g.299999C>T , LRG_391:g.299999C>T
NG_051363.1:g.17978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93107C>T (TTN)	ENSP00000343764.6:p.Ala31036Val
ENST00000342175.11:c.74192C>T (TTN)	ENSP00000340554.6:p.Ala24731Val
ENST00000359218.10:c.73991C>T (TTN)	ENSP00000352154.5:p.Ala24664Val
ENST00000342175.10:c.74192C>T (TTN)	ENSP00000340554.6:p.Ala24731Val
ENST00000342992.10:c.93107C>T (TTN)	ENSP00000343764.6:p.Ala31036Val
ENST00000359218.9:c.73991C>T (TTN)	ENSP00000352154.5:p.Ala24664Val
ENST00000460472.6:c.73616C>T (TTN)	ENSP00000434586.1:p.Ala24539Val
ENST00000589042.5:c.100811C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala33604Val
ENST00000591111.5:c.95888C>T (TTN)	ENSP00000465570.1:p.Ala31963Val
ENST00000615779.4:c.95888C>T (TTN)	ENSP00000483597.1:p.Ala31963Val
NM_001256850.1:c.95888C>T (TTN)	NP_001243779.1:p.Ala31963Val
NM_001267550.2:c.100811C>T (TTN) MANE Select	NP_001254479.2:p.Ala33604Val
NM_003319.4:c.73616C>T (TTN)	NP_003310.4:p.Ala24539Val
NM_133378.4:c.93107C>T (TTN)	NP_596869.4:p.Ala31036Val
NM_133432.3:c.73991C>T (TTN)	NP_597676.3:p.Ala24664Val
NM_133437.4:c.74192C>T (TTN)	NP_597681.4:p.Ala24731Val
NR_038271.1:n.446+12168G>A (TTN-AS1)
NR_038272.1:n.292G>A (TTN-AS1)
XM_011511729.1:c.99908C>T (TTN)	XP_011510031.1:p.Ala33303Val
XM_011511730.1:c.73802C>T (TTN)	XP_011510032.1:p.Ala24601Val
XM_011511731.1:c.73661C>T (TTN)	XP_011510033.1:p.Ala24554Val
XM_017004819.1:c.99704C>T (TTN)	XP_016860308.1:p.Ala33235Val
XM_017004820.1:c.95102C>T (TTN)	XP_016860309.1:p.Ala31701Val
XM_017004821.1:c.95099C>T (TTN)	XP_016860310.1:p.Ala31700Val
XM_017004822.1:c.92141C>T (TTN)	XP_016860311.1:p.Ala30714Val
XM_017004823.1:c.73757C>T (TTN)	XP_016860312.1:p.Ala24586Val
XM_024453094.1:c.95252C>T (TTN)	XP_024308862.1:p.Ala31751Val
XM_024453095.1:c.95249C>T (TTN)	XP_024308863.1:p.Ala31750Val
XM_024453096.1:c.94682C>T (TTN)	XP_024308864.1:p.Ala31561Val
XM_024453097.1:c.92024C>T (TTN)	XP_024308865.1:p.Ala30675Val
XM_024453098.1:c.91943C>T (TTN)	XP_024308866.1:p.Ala30648Val
XM_024453099.1:c.73706C>T (TTN)	XP_024308867.1:p.Ala24569Val
XM_024453100.1:c.63560C>T (TTN)	XP_024308868.1:p.Ala21187Val