Canonical Allele Identifier: CA261909

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47397
• ClinVar RCV Id: RCV000040667 ; RCV001378905 ; RCV001290682
• dbSNP Id: rs397517721
• MyVariant Identifiers: chr2:g.179429327C>A (hg19) ; chr2:g.178564600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564600C>A , CM000664.2:g.178564600C>A	GRCh38
NC_000002.11:g.179429327C>A , CM000664.1:g.179429327C>A	GRCh37
NC_000002.10:g.179137573C>A	NCBI36
NG_011618.3:g.271203G>T , LRG_391:g.271203G>T
NG_051363.1:g.46774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.73828G>T (TTN)	ENSP00000343764.6:p.Glu24610Ter
ENST00000342175.11:c.54913G>T (TTN)	ENSP00000340554.6:p.Glu18305Ter
ENST00000359218.10:c.54712G>T (TTN)	ENSP00000352154.5:p.Glu18238Ter
ENST00000342175.10:c.54913G>T (TTN)	ENSP00000340554.6:p.Glu18305Ter
ENST00000342992.10:c.73828G>T (TTN)	ENSP00000343764.6:p.Glu24610Ter
ENST00000359218.9:c.54712G>T (TTN)	ENSP00000352154.5:p.Glu18238Ter
ENST00000460472.6:c.54337G>T (TTN)	ENSP00000434586.1:p.Glu18113Ter
ENST00000589042.5:c.81532G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu27178Ter
ENST00000591111.5:c.76609G>T (TTN)	ENSP00000465570.1:p.Glu25537Ter
ENST00000615779.4:c.76609G>T (TTN)	ENSP00000483597.1:p.Glu25537Ter
NM_001256850.1:c.76609G>T (TTN)	NP_001243779.1:p.Glu25537Ter
NM_001267550.2:c.81532G>T (TTN) MANE Select	NP_001254479.2:p.Glu27178Ter
NM_003319.4:c.54337G>T (TTN)	NP_003310.4:p.Glu18113Ter
NM_133378.4:c.73828G>T (TTN)	NP_596869.4:p.Glu24610Ter
NM_133432.3:c.54712G>T (TTN)	NP_597676.3:p.Glu18238Ter
NM_133437.4:c.54913G>T (TTN)	NP_597681.4:p.Glu18305Ter
NR_038271.1:n.447-6700C>A (TTN-AS1)
NR_038272.1:n.2044-17972C>A (TTN-AS1)
XM_011511729.1:c.80629G>T (TTN)	XP_011510031.1:p.Glu26877Ter
XM_011511730.1:c.54523G>T (TTN)	XP_011510032.1:p.Glu18175Ter
XM_011511731.1:c.54382G>T (TTN)	XP_011510033.1:p.Glu18128Ter
XM_017004819.1:c.80425G>T (TTN)	XP_016860308.1:p.Glu26809Ter
XM_017004820.1:c.75823G>T (TTN)	XP_016860309.1:p.Glu25275Ter
XM_017004821.1:c.75820G>T (TTN)	XP_016860310.1:p.Glu25274Ter
XM_017004822.1:c.72862G>T (TTN)	XP_016860311.1:p.Glu24288Ter
XM_017004823.1:c.54478G>T (TTN)	XP_016860312.1:p.Glu18160Ter
XM_024453094.1:c.75973G>T (TTN)	XP_024308862.1:p.Glu25325Ter
XM_024453095.1:c.75970G>T (TTN)	XP_024308863.1:p.Glu25324Ter
XM_024453096.1:c.75403G>T (TTN)	XP_024308864.1:p.Glu25135Ter
XM_024453097.1:c.72745G>T (TTN)	XP_024308865.1:p.Glu24249Ter
XM_024453098.1:c.72664G>T (TTN)	XP_024308866.1:p.Glu24222Ter
XM_024453099.1:c.54427G>T (TTN)	XP_024308867.1:p.Glu18143Ter
XM_024453100.1:c.44281G>T (TTN)	XP_024308868.1:p.Glu14761Ter