Canonical Allele Identifier: CA309284

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202395
• ClinVar RCV Id: RCV000184244 ; RCV001852385
• dbSNP Id: rs72646837
• MyVariant Identifiers: chr2:g.179458850C>A (hg19) ; chr2:g.178594123C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594123C>A , CM000664.2:g.178594123C>A	GRCh38
NC_000002.11:g.179458850C>A , CM000664.1:g.179458850C>A	GRCh37
NC_000002.10:g.179167096C>A	NCBI36
NG_011618.3:g.241680G>T , LRG_391:g.241680G>T
NG_051363.1:g.76297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50566G>T (TTN)	ENSP00000343764.6:p.Glu16856Ter
ENST00000342175.11:c.31651G>T (TTN)	ENSP00000340554.6:p.Glu10551Ter
ENST00000359218.10:c.31450G>T (TTN)	ENSP00000352154.5:p.Glu10484Ter
ENST00000342175.10:c.31651G>T (TTN)	ENSP00000340554.6:p.Glu10551Ter
ENST00000342992.10:c.50566G>T (TTN)	ENSP00000343764.6:p.Glu16856Ter
ENST00000359218.9:c.31450G>T (TTN)	ENSP00000352154.5:p.Glu10484Ter
ENST00000460472.6:c.31075G>T (TTN)	ENSP00000434586.1:p.Glu10359Ter
ENST00000589042.5:c.58270G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19424Ter
ENST00000591111.5:c.53347G>T (TTN)	ENSP00000465570.1:p.Glu17783Ter
ENST00000615779.4:c.53347G>T (TTN)	ENSP00000483597.1:p.Glu17783Ter
NM_001256850.1:c.53347G>T (TTN)	NP_001243779.1:p.Glu17783Ter
NM_001267550.2:c.58270G>T (TTN) MANE Select	NP_001254479.2:p.Glu19424Ter
NM_003319.4:c.31075G>T (TTN)	NP_003310.4:p.Glu10359Ter
NM_133378.4:c.50566G>T (TTN)	NP_596869.4:p.Glu16856Ter
NM_133432.3:c.31450G>T (TTN)	NP_597676.3:p.Glu10484Ter
NM_133437.4:c.31651G>T (TTN)	NP_597681.4:p.Glu10551Ter
NR_038271.1:n.597-3473C>A (TTN-AS1)
NR_038272.1:n.3364+2809C>A (TTN-AS1)
XM_011511729.1:c.57367G>T (TTN)	XP_011510031.1:p.Glu19123Ter
XM_011511730.1:c.31261G>T (TTN)	XP_011510032.1:p.Glu10421Ter
XM_011511731.1:c.31120G>T (TTN)	XP_011510033.1:p.Glu10374Ter
XM_017004819.1:c.57163G>T (TTN)	XP_016860308.1:p.Glu19055Ter
XM_017004820.1:c.52561G>T (TTN)	XP_016860309.1:p.Glu17521Ter
XM_017004821.1:c.52558G>T (TTN)	XP_016860310.1:p.Glu17520Ter
XM_017004822.1:c.49600G>T (TTN)	XP_016860311.1:p.Glu16534Ter
XM_017004823.1:c.31216G>T (TTN)	XP_016860312.1:p.Glu10406Ter
XM_024453094.1:c.52711G>T (TTN)	XP_024308862.1:p.Glu17571Ter
XM_024453095.1:c.52708G>T (TTN)	XP_024308863.1:p.Glu17570Ter
XM_024453096.1:c.52141G>T (TTN)	XP_024308864.1:p.Glu17381Ter
XM_024453097.1:c.49483G>T (TTN)	XP_024308865.1:p.Glu16495Ter
XM_024453098.1:c.49402G>T (TTN)	XP_024308866.1:p.Glu16468Ter
XM_024453099.1:c.31165G>T (TTN)	XP_024308867.1:p.Glu10389Ter
XM_024453100.1:c.21019G>T (TTN)	XP_024308868.1:p.Glu7007Ter