Canonical Allele Identifier: CA349405532

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2943577
• ClinVar RCV Id: RCV003803135
• MyVariant Identifiers: chr2:g.179394821T>C (hg19) ; chr2:g.178530094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530094T>C , CM000664.2:g.178530094T>C	GRCh38
NC_000002.11:g.179394821T>C , CM000664.1:g.179394821T>C	GRCh37
NC_000002.10:g.179103067T>C	NCBI36
NG_011618.3:g.305709A>G , LRG_391:g.305709A>G
NG_051363.1:g.12268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98693A>G (TTN)	ENSP00000343764.6:p.Tyr32898Cys
ENST00000342175.11:c.79778A>G (TTN)	ENSP00000340554.6:p.Tyr26593Cys
ENST00000359218.10:c.79577A>G (TTN)	ENSP00000352154.5:p.Tyr26526Cys
ENST00000342175.10:c.79778A>G (TTN)	ENSP00000340554.6:p.Tyr26593Cys
ENST00000342992.10:c.98693A>G (TTN)	ENSP00000343764.6:p.Tyr32898Cys
ENST00000359218.9:c.79577A>G (TTN)	ENSP00000352154.5:p.Tyr26526Cys
ENST00000460472.6:c.79202A>G (TTN)	ENSP00000434586.1:p.Tyr26401Cys
ENST00000589042.5:c.106397A>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr35466Cys
ENST00000591111.5:c.101474A>G (TTN)	ENSP00000465570.1:p.Tyr33825Cys
ENST00000615779.4:c.101474A>G (TTN)	ENSP00000483597.1:p.Tyr33825Cys
NM_001256850.1:c.101474A>G (TTN)	NP_001243779.1:p.Tyr33825Cys
NM_001267550.2:c.106397A>G (TTN) MANE Select	NP_001254479.2:p.Tyr35466Cys
NM_003319.4:c.79202A>G (TTN)	NP_003310.4:p.Tyr26401Cys
NM_133378.4:c.98693A>G (TTN)	NP_596869.4:p.Tyr32898Cys
NM_133432.3:c.79577A>G (TTN)	NP_597676.3:p.Tyr26526Cys
NM_133437.4:c.79778A>G (TTN)	NP_597681.4:p.Tyr26593Cys
NR_038271.1:n.446+6458T>C (TTN-AS1)
NR_038272.1:n.220-5638T>C (TTN-AS1)
XM_011511729.1:c.105494A>G (TTN)	XP_011510031.1:p.Tyr35165Cys
XM_011511730.1:c.79388A>G (TTN)	XP_011510032.1:p.Tyr26463Cys
XM_011511731.1:c.79247A>G (TTN)	XP_011510033.1:p.Tyr26416Cys
XM_017004819.1:c.105290A>G (TTN)	XP_016860308.1:p.Tyr35097Cys
XM_017004820.1:c.100688A>G (TTN)	XP_016860309.1:p.Tyr33563Cys
XM_017004821.1:c.100685A>G (TTN)	XP_016860310.1:p.Tyr33562Cys
XM_017004822.1:c.97727A>G (TTN)	XP_016860311.1:p.Tyr32576Cys
XM_017004823.1:c.79343A>G (TTN)	XP_016860312.1:p.Tyr26448Cys
XM_024453094.1:c.100838A>G (TTN)	XP_024308862.1:p.Tyr33613Cys
XM_024453095.1:c.100835A>G (TTN)	XP_024308863.1:p.Tyr33612Cys
XM_024453096.1:c.100268A>G (TTN)	XP_024308864.1:p.Tyr33423Cys
XM_024453097.1:c.97610A>G (TTN)	XP_024308865.1:p.Tyr32537Cys
XM_024453098.1:c.97529A>G (TTN)	XP_024308866.1:p.Tyr32510Cys
XM_024453099.1:c.79292A>G (TTN)	XP_024308867.1:p.Tyr26431Cys
XM_024453100.1:c.69146A>G (TTN)	XP_024308868.1:p.Tyr23049Cys