Canonical Allele Identifier: CA16610211

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404937
• ClinVar RCV Id: RCV002223840 ; RCV001377975
• dbSNP Id: rs1060500505
• MyVariant Identifiers: chr2:g.179397968G>T (hg19) ; chr2:g.178533241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533241G>T , CM000664.2:g.178533241G>T	GRCh38
NC_000002.11:g.179397968G>T , CM000664.1:g.179397968G>T	GRCh37
NC_000002.10:g.179106214G>T	NCBI36
NG_011618.3:g.302562C>A , LRG_391:g.302562C>A
NG_051363.1:g.15415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.95670C>A (TTN)	ENSP00000343764.6:p.Tyr31890Ter
ENST00000342175.11:c.76755C>A (TTN)	ENSP00000340554.6:p.Tyr25585Ter
ENST00000359218.10:c.76554C>A (TTN)	ENSP00000352154.5:p.Tyr25518Ter
ENST00000342175.10:c.76755C>A (TTN)	ENSP00000340554.6:p.Tyr25585Ter
ENST00000342992.10:c.95670C>A (TTN)	ENSP00000343764.6:p.Tyr31890Ter
ENST00000359218.9:c.76554C>A (TTN)	ENSP00000352154.5:p.Tyr25518Ter
ENST00000460472.6:c.76179C>A (TTN)	ENSP00000434586.1:p.Tyr25393Ter
ENST00000589042.5:c.103374C>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr34458Ter
ENST00000591111.5:c.98451C>A (TTN)	ENSP00000465570.1:p.Tyr32817Ter
ENST00000615779.4:c.98451C>A (TTN)	ENSP00000483597.1:p.Tyr32817Ter
NM_001256850.1:c.98451C>A (TTN)	NP_001243779.1:p.Tyr32817Ter
NM_001267550.2:c.103374C>A (TTN) MANE Select	NP_001254479.2:p.Tyr34458Ter
NM_003319.4:c.76179C>A (TTN)	NP_003310.4:p.Tyr25393Ter
NM_133378.4:c.95670C>A (TTN)	NP_596869.4:p.Tyr31890Ter
NM_133432.3:c.76554C>A (TTN)	NP_597676.3:p.Tyr25518Ter
NM_133437.4:c.76755C>A (TTN)	NP_597681.4:p.Tyr25585Ter
NR_038271.1:n.446+9605G>T (TTN-AS1)
NR_038272.1:n.220-2491G>T (TTN-AS1)
XM_011511729.1:c.102471C>A (TTN)	XP_011510031.1:p.Tyr34157Ter
XM_011511730.1:c.76365C>A (TTN)	XP_011510032.1:p.Tyr25455Ter
XM_011511731.1:c.76224C>A (TTN)	XP_011510033.1:p.Tyr25408Ter
XM_017004819.1:c.102267C>A (TTN)	XP_016860308.1:p.Tyr34089Ter
XM_017004820.1:c.97665C>A (TTN)	XP_016860309.1:p.Tyr32555Ter
XM_017004821.1:c.97662C>A (TTN)	XP_016860310.1:p.Tyr32554Ter
XM_017004822.1:c.94704C>A (TTN)	XP_016860311.1:p.Tyr31568Ter
XM_017004823.1:c.76320C>A (TTN)	XP_016860312.1:p.Tyr25440Ter
XM_024453094.1:c.97815C>A (TTN)	XP_024308862.1:p.Tyr32605Ter
XM_024453095.1:c.97812C>A (TTN)	XP_024308863.1:p.Tyr32604Ter
XM_024453096.1:c.97245C>A (TTN)	XP_024308864.1:p.Tyr32415Ter
XM_024453097.1:c.94587C>A (TTN)	XP_024308865.1:p.Tyr31529Ter
XM_024453098.1:c.94506C>A (TTN)	XP_024308866.1:p.Tyr31502Ter
XM_024453099.1:c.76269C>A (TTN)	XP_024308867.1:p.Tyr25423Ter
XM_024453100.1:c.66123C>A (TTN)	XP_024308868.1:p.Tyr22041Ter