Canonical Allele Identifier: CA10604692

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 284113
• ClinVar RCV Id: RCV000579111 ; RCV001377585
• dbSNP Id: rs886042795
• MyVariant Identifiers: chr2:g.179395857C>T (hg19) ; chr2:g.178531130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531130C>T , CM000664.2:g.178531130C>T	GRCh38
NC_000002.11:g.179395857C>T , CM000664.1:g.179395857C>T	GRCh37
NC_000002.10:g.179104103C>T	NCBI36
NG_011618.3:g.304673G>A , LRG_391:g.304673G>A
NG_051363.1:g.13304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.97781G>A (TTN)	ENSP00000343764.6:p.Trp32594Ter
ENST00000342175.11:c.78866G>A (TTN)	ENSP00000340554.6:p.Trp26289Ter
ENST00000359218.10:c.78665G>A (TTN)	ENSP00000352154.5:p.Trp26222Ter
ENST00000342175.10:c.78866G>A (TTN)	ENSP00000340554.6:p.Trp26289Ter
ENST00000342992.10:c.97781G>A (TTN)	ENSP00000343764.6:p.Trp32594Ter
ENST00000359218.9:c.78665G>A (TTN)	ENSP00000352154.5:p.Trp26222Ter
ENST00000460472.6:c.78290G>A (TTN)	ENSP00000434586.1:p.Trp26097Ter
ENST00000589042.5:c.105485G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp35162Ter
ENST00000591111.5:c.100562G>A (TTN)	ENSP00000465570.1:p.Trp33521Ter
ENST00000615779.4:c.100562G>A (TTN)	ENSP00000483597.1:p.Trp33521Ter
NM_001256850.1:c.100562G>A (TTN)	NP_001243779.1:p.Trp33521Ter
NM_001267550.2:c.105485G>A (TTN) MANE Select	NP_001254479.2:p.Trp35162Ter
NM_003319.4:c.78290G>A (TTN)	NP_003310.4:p.Trp26097Ter
NM_133378.4:c.97781G>A (TTN)	NP_596869.4:p.Trp32594Ter
NM_133432.3:c.78665G>A (TTN)	NP_597676.3:p.Trp26222Ter
NM_133437.4:c.78866G>A (TTN)	NP_597681.4:p.Trp26289Ter
NR_038271.1:n.446+7494C>T (TTN-AS1)
NR_038272.1:n.220-4602C>T (TTN-AS1)
XM_011511729.1:c.104582G>A (TTN)	XP_011510031.1:p.Trp34861Ter
XM_011511730.1:c.78476G>A (TTN)	XP_011510032.1:p.Trp26159Ter
XM_011511731.1:c.78335G>A (TTN)	XP_011510033.1:p.Trp26112Ter
XM_017004819.1:c.104378G>A (TTN)	XP_016860308.1:p.Trp34793Ter
XM_017004820.1:c.99776G>A (TTN)	XP_016860309.1:p.Trp33259Ter
XM_017004821.1:c.99773G>A (TTN)	XP_016860310.1:p.Trp33258Ter
XM_017004822.1:c.96815G>A (TTN)	XP_016860311.1:p.Trp32272Ter
XM_017004823.1:c.78431G>A (TTN)	XP_016860312.1:p.Trp26144Ter
XM_024453094.1:c.99926G>A (TTN)	XP_024308862.1:p.Trp33309Ter
XM_024453095.1:c.99923G>A (TTN)	XP_024308863.1:p.Trp33308Ter
XM_024453096.1:c.99356G>A (TTN)	XP_024308864.1:p.Trp33119Ter
XM_024453097.1:c.96698G>A (TTN)	XP_024308865.1:p.Trp32233Ter
XM_024453098.1:c.96617G>A (TTN)	XP_024308866.1:p.Trp32206Ter
XM_024453099.1:c.78380G>A (TTN)	XP_024308867.1:p.Trp26127Ter
XM_024453100.1:c.68234G>A (TTN)	XP_024308868.1:p.Trp22745Ter