Canonical Allele Identifier: CA10604691

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 284110
• ClinVar RCV Id: RCV000380276
• dbSNP Id: rs886042794
• MyVariant Identifiers: chr2:g.179391821T>C (hg19) ; chr2:g.178527094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527094T>C , CM000664.2:g.178527094T>C	GRCh38
NC_000002.11:g.179391821T>C , CM000664.1:g.179391821T>C	GRCh37
NC_000002.10:g.179100067T>C	NCBI36
NG_011618.3:g.308709A>G , LRG_391:g.308709A>G
NG_051363.1:g.9268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100190A>G (TTN)	ENSP00000343764.6:p.Asp33397Gly
ENST00000342175.11:c.81275A>G (TTN)	ENSP00000340554.6:p.Asp27092Gly
ENST00000359218.10:c.81074A>G (TTN)	ENSP00000352154.5:p.Asp27025Gly
ENST00000342175.10:c.81275A>G (TTN)	ENSP00000340554.6:p.Asp27092Gly
ENST00000342992.10:c.100190A>G (TTN)	ENSP00000343764.6:p.Asp33397Gly
ENST00000359218.9:c.81074A>G (TTN)	ENSP00000352154.5:p.Asp27025Gly
ENST00000460472.6:c.80699A>G (TTN)	ENSP00000434586.1:p.Asp26900Gly
ENST00000589042.5:c.107894A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp35965Gly
ENST00000591111.5:c.102971A>G (TTN)	ENSP00000465570.1:p.Asp34324Gly
ENST00000615779.4:c.102971A>G (TTN)	ENSP00000483597.1:p.Asp34324Gly
NM_001256850.1:c.102971A>G (TTN)	NP_001243779.1:p.Asp34324Gly
NM_001267550.2:c.107894A>G (TTN) MANE Select	NP_001254479.2:p.Asp35965Gly
NM_003319.4:c.80699A>G (TTN)	NP_003310.4:p.Asp26900Gly
NM_133378.4:c.100190A>G (TTN)	NP_596869.4:p.Asp33397Gly
NM_133432.3:c.81074A>G (TTN)	NP_597676.3:p.Asp27025Gly
NM_133437.4:c.81275A>G (TTN)	NP_597681.4:p.Asp27092Gly
NR_038271.1:n.446+3458T>C (TTN-AS1)
NR_038272.1:n.219+3458T>C (TTN-AS1)
XM_011511729.1:c.106991A>G (TTN)	XP_011510031.1:p.Asp35664Gly
XM_011511730.1:c.80885A>G (TTN)	XP_011510032.1:p.Asp26962Gly
XM_011511731.1:c.80744A>G (TTN)	XP_011510033.1:p.Asp26915Gly
XM_017004819.1:c.106787A>G (TTN)	XP_016860308.1:p.Asp35596Gly
XM_017004820.1:c.102185A>G (TTN)	XP_016860309.1:p.Asp34062Gly
XM_017004821.1:c.102182A>G (TTN)	XP_016860310.1:p.Asp34061Gly
XM_017004822.1:c.99224A>G (TTN)	XP_016860311.1:p.Asp33075Gly
XM_017004823.1:c.80840A>G (TTN)	XP_016860312.1:p.Asp26947Gly
XM_024453094.1:c.102335A>G (TTN)	XP_024308862.1:p.Asp34112Gly
XM_024453095.1:c.102332A>G (TTN)	XP_024308863.1:p.Asp34111Gly
XM_024453096.1:c.101765A>G (TTN)	XP_024308864.1:p.Asp33922Gly
XM_024453097.1:c.99107A>G (TTN)	XP_024308865.1:p.Asp33036Gly
XM_024453098.1:c.99026A>G (TTN)	XP_024308866.1:p.Asp33009Gly
XM_024453099.1:c.80789A>G (TTN)	XP_024308867.1:p.Asp26930Gly
XM_024453100.1:c.70643A>G (TTN)	XP_024308868.1:p.Asp23548Gly