Canonical Allele Identifier: CA346773

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 180580
• ClinVar RCV Id: RCV000157576
• dbSNP Id: rs72648265
• MyVariant Identifiers: chr2:g.179408990del (hg19) ; chr2:g.178544263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544264del , CM000664.2:g.178544264del	GRCh38
NC_000002.11:g.179408991del , CM000664.1:g.179408991del	GRCh37
NC_000002.10:g.179117237del	NCBI36
NG_011618.3:g.291540del , LRG_391:g.291540del
NG_051363.1:g.26438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88262del (TTN)	ENSP00000343764.6:p.Asn29421ThrfsTer2
ENST00000342175.11:c.69347del (TTN)	ENSP00000340554.6:p.Asn23116ThrfsTer2
ENST00000359218.10:c.69146del (TTN)	ENSP00000352154.5:p.Asn23049ThrfsTer2
ENST00000342175.10:c.69347del (TTN)	ENSP00000340554.6:p.Asn23116ThrfsTer2
ENST00000342992.10:c.88262del (TTN)	ENSP00000343764.6:p.Asn29421ThrfsTer2
ENST00000359218.9:c.69146del (TTN)	ENSP00000352154.5:p.Asn23049ThrfsTer2
ENST00000460472.6:c.68771del (TTN)	ENSP00000434586.1:p.Asn22924ThrfsTer2
ENST00000589042.5:c.95966del (TTN) MANE Select	ENSP00000467141.1:p.Asn31989ThrfsTer2
ENST00000591111.5:c.91043del (TTN)	ENSP00000465570.1:p.Asn30348ThrfsTer2
ENST00000615779.4:c.91043del (TTN)	ENSP00000483597.1:p.Asn30348ThrfsTer2
NM_001256850.1:c.91043del (TTN)	NP_001243779.1:p.Asn30348ThrfsTer2
NM_001267550.2:c.95966del (TTN) MANE Select	NP_001254479.2:p.Asn31989ThrfsTer2
NM_003319.4:c.68771del (TTN)	NP_003310.4:p.Asn22924ThrfsTer2
NM_133378.4:c.88262del (TTN)	NP_596869.4:p.Asn29421ThrfsTer2
NM_133432.3:c.69146del (TTN)	NP_597676.3:p.Asn23049ThrfsTer2
NM_133437.4:c.69347del (TTN)	NP_597681.4:p.Asn23116ThrfsTer2
NR_038271.1:n.446+20628del (TTN-AS1)
NR_038272.1:n.2043+1903del (TTN-AS1)
XM_011511729.1:c.95063del (TTN)	XP_011510031.1:p.Asn31688ThrfsTer2
XM_011511730.1:c.68957del (TTN)	XP_011510032.1:p.Asn22986ThrfsTer2
XM_011511731.1:c.68816del (TTN)	XP_011510033.1:p.Asn22939ThrfsTer2
XM_017004819.1:c.94859del (TTN)	XP_016860308.1:p.Asn31620ThrfsTer2
XM_017004820.1:c.90257del (TTN)	XP_016860309.1:p.Asn30086ThrfsTer2
XM_017004821.1:c.90254del (TTN)	XP_016860310.1:p.Asn30085ThrfsTer2
XM_017004822.1:c.87296del (TTN)	XP_016860311.1:p.Asn29099ThrfsTer2
XM_017004823.1:c.68912del (TTN)	XP_016860312.1:p.Asn22971ThrfsTer2
XM_024453094.1:c.90407del (TTN)	XP_024308862.1:p.Asn30136ThrfsTer2
XM_024453095.1:c.90404del (TTN)	XP_024308863.1:p.Asn30135ThrfsTer2
XM_024453096.1:c.89837del (TTN)	XP_024308864.1:p.Asn29946ThrfsTer2
XM_024453097.1:c.87179del (TTN)	XP_024308865.1:p.Asn29060ThrfsTer2
XM_024453098.1:c.87098del (TTN)	XP_024308866.1:p.Asn29033ThrfsTer2
XM_024453099.1:c.68861del (TTN)	XP_024308867.1:p.Asn22954ThrfsTer2
XM_024453100.1:c.58715del (TTN)	XP_024308868.1:p.Asn19572ThrfsTer2