Canonical Allele Identifier: CA349612840

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466632
• ClinVar RCV Id: RCV001377019
• dbSNP Id: rs878982457
• MyVariant Identifiers: chr2:g.179481722A>T (hg19) ; chr2:g.178616995A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178616995A>T , CM000664.2:g.178616995A>T	GRCh38
NC_000002.11:g.179481722A>T , CM000664.1:g.179481722A>T	GRCh37
NC_000002.10:g.179189967A>T	NCBI36
NG_011618.3:g.218808T>A , LRG_391:g.218808T>A
NG_051363.1:g.99169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.40190T>A (TTN)	ENSP00000343764.6:p.Leu13397Ter
ENST00000342175.11:c.21275T>A (TTN)	ENSP00000340554.6:p.Leu7092Ter
ENST00000359218.10:c.21074T>A (TTN)	ENSP00000352154.5:p.Leu7025Ter
ENST00000342175.10:c.21275T>A (TTN)	ENSP00000340554.6:p.Leu7092Ter
ENST00000342992.10:c.40190T>A (TTN)	ENSP00000343764.6:p.Leu13397Ter
ENST00000359218.9:c.21074T>A (TTN)	ENSP00000352154.5:p.Leu7025Ter
ENST00000460472.6:c.20699T>A (TTN)	ENSP00000434586.1:p.Leu6900Ter
ENST00000589042.5:c.47894T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu15965Ter
ENST00000591111.5:c.42971T>A (TTN)	ENSP00000465570.1:p.Leu14324Ter
ENST00000615779.4:c.42971T>A (TTN)	ENSP00000483597.1:p.Leu14324Ter
NM_001256850.1:c.42971T>A (TTN)	NP_001243779.1:p.Leu14324Ter
NM_001267550.2:c.47894T>A (TTN) MANE Select	NP_001254479.2:p.Leu15965Ter
NM_003319.4:c.20699T>A (TTN)	NP_003310.4:p.Leu6900Ter
NM_133378.4:c.40190T>A (TTN)	NP_596869.4:p.Leu13397Ter
NM_133432.3:c.21074T>A (TTN)	NP_597676.3:p.Leu7025Ter
NM_133437.4:c.21275T>A (TTN)	NP_597681.4:p.Leu7092Ter
NR_038271.1:n.1604+1621A>T (TTN-AS1)
XM_011511729.1:c.46991T>A (TTN)	XP_011510031.1:p.Leu15664Ter
XM_011511730.1:c.20885T>A (TTN)	XP_011510032.1:p.Leu6962Ter
XM_011511731.1:c.20744T>A (TTN)	XP_011510033.1:p.Leu6915Ter
XM_017004819.1:c.46787T>A (TTN)	XP_016860308.1:p.Leu15596Ter
XM_017004820.1:c.42185T>A (TTN)	XP_016860309.1:p.Leu14062Ter
XM_017004821.1:c.42182T>A (TTN)	XP_016860310.1:p.Leu14061Ter
XM_017004822.1:c.39224T>A (TTN)	XP_016860311.1:p.Leu13075Ter
XM_017004823.1:c.20840T>A (TTN)	XP_016860312.1:p.Leu6947Ter
XM_024453094.1:c.42335T>A (TTN)	XP_024308862.1:p.Leu14112Ter
XM_024453095.1:c.42332T>A (TTN)	XP_024308863.1:p.Leu14111Ter
XM_024453096.1:c.41765T>A (TTN)	XP_024308864.1:p.Leu13922Ter
XM_024453097.1:c.39107T>A (TTN)	XP_024308865.1:p.Leu13036Ter
XM_024453098.1:c.39026T>A (TTN)	XP_024308866.1:p.Leu13009Ter
XM_024453099.1:c.20789T>A (TTN)	XP_024308867.1:p.Leu6930Ter
XM_024453100.1:c.10643T>A (TTN)	XP_024308868.1:p.Leu3548Ter