Canonical Allele Identifier: CA16610212

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404847
• ClinVar RCV Id: RCV001379114
• dbSNP Id: rs1060500471
• MyVariant Identifiers: chr2:g.179399281G>A (hg19) ; chr2:g.178534554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534554G>A , CM000664.2:g.178534554G>A	GRCh38
NC_000002.11:g.179399281G>A , CM000664.1:g.179399281G>A	GRCh37
NC_000002.10:g.179107527G>A	NCBI36
NG_011618.3:g.301249C>T , LRG_391:g.301249C>T
NG_051363.1:g.16728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.94357C>T (TTN)	ENSP00000343764.6:p.Gln31453Ter
ENST00000342175.11:c.75442C>T (TTN)	ENSP00000340554.6:p.Gln25148Ter
ENST00000359218.10:c.75241C>T (TTN)	ENSP00000352154.5:p.Gln25081Ter
ENST00000342175.10:c.75442C>T (TTN)	ENSP00000340554.6:p.Gln25148Ter
ENST00000342992.10:c.94357C>T (TTN)	ENSP00000343764.6:p.Gln31453Ter
ENST00000359218.9:c.75241C>T (TTN)	ENSP00000352154.5:p.Gln25081Ter
ENST00000460472.6:c.74866C>T (TTN)	ENSP00000434586.1:p.Gln24956Ter
ENST00000589042.5:c.102061C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln34021Ter
ENST00000591111.5:c.97138C>T (TTN)	ENSP00000465570.1:p.Gln32380Ter
ENST00000615779.4:c.97138C>T (TTN)	ENSP00000483597.1:p.Gln32380Ter
NM_001256850.1:c.97138C>T (TTN)	NP_001243779.1:p.Gln32380Ter
NM_001267550.2:c.102061C>T (TTN) MANE Select	NP_001254479.2:p.Gln34021Ter
NM_003319.4:c.74866C>T (TTN)	NP_003310.4:p.Gln24956Ter
NM_133378.4:c.94357C>T (TTN)	NP_596869.4:p.Gln31453Ter
NM_133432.3:c.75241C>T (TTN)	NP_597676.3:p.Gln25081Ter
NM_133437.4:c.75442C>T (TTN)	NP_597681.4:p.Gln25148Ter
NR_038271.1:n.446+10918G>A (TTN-AS1)
NR_038272.1:n.220-1178G>A (TTN-AS1)
XM_011511729.1:c.101158C>T (TTN)	XP_011510031.1:p.Gln33720Ter
XM_011511730.1:c.75052C>T (TTN)	XP_011510032.1:p.Gln25018Ter
XM_011511731.1:c.74911C>T (TTN)	XP_011510033.1:p.Gln24971Ter
XM_017004819.1:c.100954C>T (TTN)	XP_016860308.1:p.Gln33652Ter
XM_017004820.1:c.96352C>T (TTN)	XP_016860309.1:p.Gln32118Ter
XM_017004821.1:c.96349C>T (TTN)	XP_016860310.1:p.Gln32117Ter
XM_017004822.1:c.93391C>T (TTN)	XP_016860311.1:p.Gln31131Ter
XM_017004823.1:c.75007C>T (TTN)	XP_016860312.1:p.Gln25003Ter
XM_024453094.1:c.96502C>T (TTN)	XP_024308862.1:p.Gln32168Ter
XM_024453095.1:c.96499C>T (TTN)	XP_024308863.1:p.Gln32167Ter
XM_024453096.1:c.95932C>T (TTN)	XP_024308864.1:p.Gln31978Ter
XM_024453097.1:c.93274C>T (TTN)	XP_024308865.1:p.Gln31092Ter
XM_024453098.1:c.93193C>T (TTN)	XP_024308866.1:p.Gln31065Ter
XM_024453099.1:c.74956C>T (TTN)	XP_024308867.1:p.Gln24986Ter
XM_024453100.1:c.64810C>T (TTN)	XP_024308868.1:p.Gln21604Ter