Canonical Allele Identifier: CA309336

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202413
• ClinVar RCV Id: RCV000184269 ; RCV003765147
• dbSNP Id: rs794729292
• MyVariant Identifiers: chr2:g.179429522C>A (hg19) ; chr2:g.178564795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564795C>A , CM000664.2:g.178564795C>A	GRCh38
NC_000002.11:g.179429522C>A , CM000664.1:g.179429522C>A	GRCh37
NC_000002.10:g.179137768C>A	NCBI36
NG_011618.3:g.271008G>T , LRG_391:g.271008G>T
NG_051363.1:g.46969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.73633G>T (TTN)	ENSP00000343764.6:p.Glu24545Ter
ENST00000342175.11:c.54718G>T (TTN)	ENSP00000340554.6:p.Glu18240Ter
ENST00000359218.10:c.54517G>T (TTN)	ENSP00000352154.5:p.Glu18173Ter
ENST00000342175.10:c.54718G>T (TTN)	ENSP00000340554.6:p.Glu18240Ter
ENST00000342992.10:c.73633G>T (TTN)	ENSP00000343764.6:p.Glu24545Ter
ENST00000359218.9:c.54517G>T (TTN)	ENSP00000352154.5:p.Glu18173Ter
ENST00000460472.6:c.54142G>T (TTN)	ENSP00000434586.1:p.Glu18048Ter
ENST00000589042.5:c.81337G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu27113Ter
ENST00000591111.5:c.76414G>T (TTN)	ENSP00000465570.1:p.Glu25472Ter
ENST00000615779.4:c.76414G>T (TTN)	ENSP00000483597.1:p.Glu25472Ter
NM_001256850.1:c.76414G>T (TTN)	NP_001243779.1:p.Glu25472Ter
NM_001267550.2:c.81337G>T (TTN) MANE Select	NP_001254479.2:p.Glu27113Ter
NM_003319.4:c.54142G>T (TTN)	NP_003310.4:p.Glu18048Ter
NM_133378.4:c.73633G>T (TTN)	NP_596869.4:p.Glu24545Ter
NM_133432.3:c.54517G>T (TTN)	NP_597676.3:p.Glu18173Ter
NM_133437.4:c.54718G>T (TTN)	NP_597681.4:p.Glu18240Ter
NR_038271.1:n.447-6505C>A (TTN-AS1)
NR_038272.1:n.2044-17777C>A (TTN-AS1)
XM_011511729.1:c.80434G>T (TTN)	XP_011510031.1:p.Glu26812Ter
XM_011511730.1:c.54328G>T (TTN)	XP_011510032.1:p.Glu18110Ter
XM_011511731.1:c.54187G>T (TTN)	XP_011510033.1:p.Glu18063Ter
XM_017004819.1:c.80230G>T (TTN)	XP_016860308.1:p.Glu26744Ter
XM_017004820.1:c.75628G>T (TTN)	XP_016860309.1:p.Glu25210Ter
XM_017004821.1:c.75625G>T (TTN)	XP_016860310.1:p.Glu25209Ter
XM_017004822.1:c.72667G>T (TTN)	XP_016860311.1:p.Glu24223Ter
XM_017004823.1:c.54283G>T (TTN)	XP_016860312.1:p.Glu18095Ter
XM_024453094.1:c.75778G>T (TTN)	XP_024308862.1:p.Glu25260Ter
XM_024453095.1:c.75775G>T (TTN)	XP_024308863.1:p.Glu25259Ter
XM_024453096.1:c.75208G>T (TTN)	XP_024308864.1:p.Glu25070Ter
XM_024453097.1:c.72550G>T (TTN)	XP_024308865.1:p.Glu24184Ter
XM_024453098.1:c.72469G>T (TTN)	XP_024308866.1:p.Glu24157Ter
XM_024453099.1:c.54232G>T (TTN)	XP_024308867.1:p.Glu18078Ter
XM_024453100.1:c.44086G>T (TTN)	XP_024308868.1:p.Glu14696Ter