Canonical Allele Identifier: CA349398276

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1495063
• ClinVar RCV Id: RCV002015171
• dbSNP Id: rs1259397789
• gnomAD v2: 2-179391789-C-A
• gnomAD v4: 2-178527062-C-A
• MyVariant Identifiers: chr2:g.179391789C>A (hg19) ; chr2:g.178527062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527062C>A , CM000664.2:g.178527062C>A	GRCh38
NC_000002.11:g.179391789C>A , CM000664.1:g.179391789C>A	GRCh37
NC_000002.10:g.179100035C>A	NCBI36
NG_011618.3:g.308741G>T , LRG_391:g.308741G>T
NG_051363.1:g.9236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100222G>T (TTN)	ENSP00000343764.6:p.Glu33408Ter
ENST00000342175.11:c.81307G>T (TTN)	ENSP00000340554.6:p.Glu27103Ter
ENST00000359218.10:c.81106G>T (TTN)	ENSP00000352154.5:p.Glu27036Ter
ENST00000342175.10:c.81307G>T (TTN)	ENSP00000340554.6:p.Glu27103Ter
ENST00000342992.10:c.100222G>T (TTN)	ENSP00000343764.6:p.Glu33408Ter
ENST00000359218.9:c.81106G>T (TTN)	ENSP00000352154.5:p.Glu27036Ter
ENST00000460472.6:c.80731G>T (TTN)	ENSP00000434586.1:p.Glu26911Ter
ENST00000589042.5:c.107926G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu35976Ter
ENST00000591111.5:c.103003G>T (TTN)	ENSP00000465570.1:p.Glu34335Ter
ENST00000615779.4:c.103003G>T (TTN)	ENSP00000483597.1:p.Glu34335Ter
NM_001256850.1:c.103003G>T (TTN)	NP_001243779.1:p.Glu34335Ter
NM_001267550.2:c.107926G>T (TTN) MANE Select	NP_001254479.2:p.Glu35976Ter
NM_003319.4:c.80731G>T (TTN)	NP_003310.4:p.Glu26911Ter
NM_133378.4:c.100222G>T (TTN)	NP_596869.4:p.Glu33408Ter
NM_133432.3:c.81106G>T (TTN)	NP_597676.3:p.Glu27036Ter
NM_133437.4:c.81307G>T (TTN)	NP_597681.4:p.Glu27103Ter
NR_038271.1:n.446+3426C>A (TTN-AS1)
NR_038272.1:n.219+3426C>A (TTN-AS1)
XM_011511729.1:c.107023G>T (TTN)	XP_011510031.1:p.Glu35675Ter
XM_011511730.1:c.80917G>T (TTN)	XP_011510032.1:p.Glu26973Ter
XM_011511731.1:c.80776G>T (TTN)	XP_011510033.1:p.Glu26926Ter
XM_017004819.1:c.106819G>T (TTN)	XP_016860308.1:p.Glu35607Ter
XM_017004820.1:c.102217G>T (TTN)	XP_016860309.1:p.Glu34073Ter
XM_017004821.1:c.102214G>T (TTN)	XP_016860310.1:p.Glu34072Ter
XM_017004822.1:c.99256G>T (TTN)	XP_016860311.1:p.Glu33086Ter
XM_017004823.1:c.80872G>T (TTN)	XP_016860312.1:p.Glu26958Ter
XM_024453094.1:c.102367G>T (TTN)	XP_024308862.1:p.Glu34123Ter
XM_024453095.1:c.102364G>T (TTN)	XP_024308863.1:p.Glu34122Ter
XM_024453096.1:c.101797G>T (TTN)	XP_024308864.1:p.Glu33933Ter
XM_024453097.1:c.99139G>T (TTN)	XP_024308865.1:p.Glu33047Ter
XM_024453098.1:c.99058G>T (TTN)	XP_024308866.1:p.Glu33020Ter
XM_024453099.1:c.80821G>T (TTN)	XP_024308867.1:p.Glu26941Ter
XM_024453100.1:c.70675G>T (TTN)	XP_024308868.1:p.Glu23559Ter