Canonical Allele Identifier: CA349454778

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534991
• ClinVar RCV Id: RCV000642738
• dbSNP Id: rs1553638539
• MyVariant Identifiers: chr2:g.179452879C>T (hg19) ; chr2:g.178588152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178588152C>T , CM000664.2:g.178588152C>T	GRCh38
NC_000002.11:g.179452879C>T , CM000664.1:g.179452879C>T	GRCh37
NC_000002.10:g.179161125C>T	NCBI36
NG_011618.3:g.247651G>A , LRG_391:g.247651G>A
NG_051363.1:g.70326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.55551G>A (TTN)	ENSP00000343764.6:p.Trp18517Ter
ENST00000342175.11:c.36636G>A (TTN)	ENSP00000340554.6:p.Trp12212Ter
ENST00000359218.10:c.36435G>A (TTN)	ENSP00000352154.5:p.Trp12145Ter
ENST00000342175.10:c.36636G>A (TTN)	ENSP00000340554.6:p.Trp12212Ter
ENST00000342992.10:c.55551G>A (TTN)	ENSP00000343764.6:p.Trp18517Ter
ENST00000359218.9:c.36435G>A (TTN)	ENSP00000352154.5:p.Trp12145Ter
ENST00000460472.6:c.36060G>A (TTN)	ENSP00000434586.1:p.Trp12020Ter
ENST00000589042.5:c.63255G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp21085Ter
ENST00000591111.5:c.58332G>A (TTN)	ENSP00000465570.1:p.Trp19444Ter
ENST00000615779.4:c.58332G>A (TTN)	ENSP00000483597.1:p.Trp19444Ter
NM_001256850.1:c.58332G>A (TTN)	NP_001243779.1:p.Trp19444Ter
NM_001267550.2:c.63255G>A (TTN) MANE Select	NP_001254479.2:p.Trp21085Ter
NM_003319.4:c.36060G>A (TTN)	NP_003310.4:p.Trp12020Ter
NM_133378.4:c.55551G>A (TTN)	NP_596869.4:p.Trp18517Ter
NM_133432.3:c.36435G>A (TTN)	NP_597676.3:p.Trp12145Ter
NM_133437.4:c.36636G>A (TTN)	NP_597681.4:p.Trp12212Ter
NR_038271.1:n.597-9444C>T (TTN-AS1)
NR_038272.1:n.3189-2987C>T (TTN-AS1)
XM_011511729.1:c.62352G>A (TTN)	XP_011510031.1:p.Trp20784Ter
XM_011511730.1:c.36246G>A (TTN)	XP_011510032.1:p.Trp12082Ter
XM_011511731.1:c.36105G>A (TTN)	XP_011510033.1:p.Trp12035Ter
XM_017004819.1:c.62148G>A (TTN)	XP_016860308.1:p.Trp20716Ter
XM_017004820.1:c.57546G>A (TTN)	XP_016860309.1:p.Trp19182Ter
XM_017004821.1:c.57543G>A (TTN)	XP_016860310.1:p.Trp19181Ter
XM_017004822.1:c.54585G>A (TTN)	XP_016860311.1:p.Trp18195Ter
XM_017004823.1:c.36201G>A (TTN)	XP_016860312.1:p.Trp12067Ter
XM_024453094.1:c.57696G>A (TTN)	XP_024308862.1:p.Trp19232Ter
XM_024453095.1:c.57693G>A (TTN)	XP_024308863.1:p.Trp19231Ter
XM_024453096.1:c.57126G>A (TTN)	XP_024308864.1:p.Trp19042Ter
XM_024453097.1:c.54468G>A (TTN)	XP_024308865.1:p.Trp18156Ter
XM_024453098.1:c.54387G>A (TTN)	XP_024308866.1:p.Trp18129Ter
XM_024453099.1:c.36150G>A (TTN)	XP_024308867.1:p.Trp12050Ter
XM_024453100.1:c.26004G>A (TTN)	XP_024308868.1:p.Trp8668Ter