Canonical Allele Identifier: CA1984860

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535041
• ClinVar RCV Id: RCV000642800 ; RCV001811136 ; RCV003441991
• dbSNP Id: rs780316966
• ExAC: 2:179391815 C / T
• gnomAD v2: 2-179391815-C-T
• gnomAD v3: 2-178527088-C-T
• gnomAD v4: 2-178527088-C-T
• MyVariant Identifiers: chr2:g.179391815C>T (hg19) ; chr2:g.178527088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527088C>T , CM000664.2:g.178527088C>T	GRCh38
NC_000002.11:g.179391815C>T , CM000664.1:g.179391815C>T	GRCh37
NC_000002.10:g.179100061C>T	NCBI36
NG_011618.3:g.308715G>A , LRG_391:g.308715G>A
NG_051363.1:g.9262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100196G>A (TTN)	ENSP00000343764.6:p.Gly33399Glu
ENST00000342175.11:c.81281G>A (TTN)	ENSP00000340554.6:p.Gly27094Glu
ENST00000359218.10:c.81080G>A (TTN)	ENSP00000352154.5:p.Gly27027Glu
ENST00000342175.10:c.81281G>A (TTN)	ENSP00000340554.6:p.Gly27094Glu
ENST00000342992.10:c.100196G>A (TTN)	ENSP00000343764.6:p.Gly33399Glu
ENST00000359218.9:c.81080G>A (TTN)	ENSP00000352154.5:p.Gly27027Glu
ENST00000460472.6:c.80705G>A (TTN)	ENSP00000434586.1:p.Gly26902Glu
ENST00000589042.5:c.107900G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35967Glu
ENST00000591111.5:c.102977G>A (TTN)	ENSP00000465570.1:p.Gly34326Glu
ENST00000615779.4:c.102977G>A (TTN)	ENSP00000483597.1:p.Gly34326Glu
NM_001256850.1:c.102977G>A (TTN)	NP_001243779.1:p.Gly34326Glu
NM_001267550.2:c.107900G>A (TTN) MANE Select	NP_001254479.2:p.Gly35967Glu
NM_003319.4:c.80705G>A (TTN)	NP_003310.4:p.Gly26902Glu
NM_133378.4:c.100196G>A (TTN)	NP_596869.4:p.Gly33399Glu
NM_133432.3:c.81080G>A (TTN)	NP_597676.3:p.Gly27027Glu
NM_133437.4:c.81281G>A (TTN)	NP_597681.4:p.Gly27094Glu
NR_038271.1:n.446+3452C>T (TTN-AS1)
NR_038272.1:n.219+3452C>T (TTN-AS1)
XM_011511729.1:c.106997G>A (TTN)	XP_011510031.1:p.Gly35666Glu
XM_011511730.1:c.80891G>A (TTN)	XP_011510032.1:p.Gly26964Glu
XM_011511731.1:c.80750G>A (TTN)	XP_011510033.1:p.Gly26917Glu
XM_017004819.1:c.106793G>A (TTN)	XP_016860308.1:p.Gly35598Glu
XM_017004820.1:c.102191G>A (TTN)	XP_016860309.1:p.Gly34064Glu
XM_017004821.1:c.102188G>A (TTN)	XP_016860310.1:p.Gly34063Glu
XM_017004822.1:c.99230G>A (TTN)	XP_016860311.1:p.Gly33077Glu
XM_017004823.1:c.80846G>A (TTN)	XP_016860312.1:p.Gly26949Glu
XM_024453094.1:c.102341G>A (TTN)	XP_024308862.1:p.Gly34114Glu
XM_024453095.1:c.102338G>A (TTN)	XP_024308863.1:p.Gly34113Glu
XM_024453096.1:c.101771G>A (TTN)	XP_024308864.1:p.Gly33924Glu
XM_024453097.1:c.99113G>A (TTN)	XP_024308865.1:p.Gly33038Glu
XM_024453098.1:c.99032G>A (TTN)	XP_024308866.1:p.Gly33011Glu
XM_024453099.1:c.80795G>A (TTN)	XP_024308867.1:p.Gly26932Glu
XM_024453100.1:c.70649G>A (TTN)	XP_024308868.1:p.Gly23550Glu