Canonical Allele Identifier: CA309287

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202396
• ClinVar RCV Id: RCV000184245 ; RCV001852386
• dbSNP Id: rs794729277
• MyVariant Identifiers: chr2:g.179456425G>A (hg19) ; chr2:g.178591698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591698G>A , CM000664.2:g.178591698G>A	GRCh38
NC_000002.11:g.179456425G>A , CM000664.1:g.179456425G>A	GRCh37
NC_000002.10:g.179164671G>A	NCBI36
NG_011618.3:g.244105C>T , LRG_391:g.244105C>T
NG_051363.1:g.73872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52417C>T (TTN)	ENSP00000343764.6:p.Gln17473Ter
ENST00000342175.11:c.33502C>T (TTN)	ENSP00000340554.6:p.Gln11168Ter
ENST00000359218.10:c.33301C>T (TTN)	ENSP00000352154.5:p.Gln11101Ter
ENST00000342175.10:c.33502C>T (TTN)	ENSP00000340554.6:p.Gln11168Ter
ENST00000342992.10:c.52417C>T (TTN)	ENSP00000343764.6:p.Gln17473Ter
ENST00000359218.9:c.33301C>T (TTN)	ENSP00000352154.5:p.Gln11101Ter
ENST00000460472.6:c.32926C>T (TTN)	ENSP00000434586.1:p.Gln10976Ter
ENST00000589042.5:c.60121C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln20041Ter
ENST00000591111.5:c.55198C>T (TTN)	ENSP00000465570.1:p.Gln18400Ter
ENST00000615779.4:c.55198C>T (TTN)	ENSP00000483597.1:p.Gln18400Ter
NM_001256850.1:c.55198C>T (TTN)	NP_001243779.1:p.Gln18400Ter
NM_001267550.2:c.60121C>T (TTN) MANE Select	NP_001254479.2:p.Gln20041Ter
NM_003319.4:c.32926C>T (TTN)	NP_003310.4:p.Gln10976Ter
NM_133378.4:c.52417C>T (TTN)	NP_596869.4:p.Gln17473Ter
NM_133432.3:c.33301C>T (TTN)	NP_597676.3:p.Gln11101Ter
NM_133437.4:c.33502C>T (TTN)	NP_597681.4:p.Gln11168Ter
NR_038271.1:n.597-5898G>A (TTN-AS1)
NR_038272.1:n.3364+384G>A (TTN-AS1)
XM_011511729.1:c.59218C>T (TTN)	XP_011510031.1:p.Gln19740Ter
XM_011511730.1:c.33112C>T (TTN)	XP_011510032.1:p.Gln11038Ter
XM_011511731.1:c.32971C>T (TTN)	XP_011510033.1:p.Gln10991Ter
XM_017004819.1:c.59014C>T (TTN)	XP_016860308.1:p.Gln19672Ter
XM_017004820.1:c.54412C>T (TTN)	XP_016860309.1:p.Gln18138Ter
XM_017004821.1:c.54409C>T (TTN)	XP_016860310.1:p.Gln18137Ter
XM_017004822.1:c.51451C>T (TTN)	XP_016860311.1:p.Gln17151Ter
XM_017004823.1:c.33067C>T (TTN)	XP_016860312.1:p.Gln11023Ter
XM_024453094.1:c.54562C>T (TTN)	XP_024308862.1:p.Gln18188Ter
XM_024453095.1:c.54559C>T (TTN)	XP_024308863.1:p.Gln18187Ter
XM_024453096.1:c.53992C>T (TTN)	XP_024308864.1:p.Gln17998Ter
XM_024453097.1:c.51334C>T (TTN)	XP_024308865.1:p.Gln17112Ter
XM_024453098.1:c.51253C>T (TTN)	XP_024308866.1:p.Gln17085Ter
XM_024453099.1:c.33016C>T (TTN)	XP_024308867.1:p.Gln11006Ter
XM_024453100.1:c.22870C>T (TTN)	XP_024308868.1:p.Gln7624Ter