Canonical Allele Identifier: CA349562639

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 426430
• ClinVar RCV Id: RCV000490001 ; RCV000769922
• dbSNP Id: rs769665204
• MyVariant Identifiers: chr2:g.179426803G>T (hg19) ; chr2:g.178562076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562076G>T , CM000664.2:g.178562076G>T	GRCh38
NC_000002.11:g.179426803G>T , CM000664.1:g.179426803G>T	GRCh37
NC_000002.10:g.179135049G>T	NCBI36
NG_011618.3:g.273727C>A , LRG_391:g.273727C>A
NG_051363.1:g.44250G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76352C>A (TTN)	ENSP00000343764.6:p.Ser25451Ter
ENST00000342175.11:c.57437C>A (TTN)	ENSP00000340554.6:p.Ser19146Ter
ENST00000359218.10:c.57236C>A (TTN)	ENSP00000352154.5:p.Ser19079Ter
ENST00000342175.10:c.57437C>A (TTN)	ENSP00000340554.6:p.Ser19146Ter
ENST00000342992.10:c.76352C>A (TTN)	ENSP00000343764.6:p.Ser25451Ter
ENST00000359218.9:c.57236C>A (TTN)	ENSP00000352154.5:p.Ser19079Ter
ENST00000460472.6:c.56861C>A (TTN)	ENSP00000434586.1:p.Ser18954Ter
ENST00000589042.5:c.84056C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser28019Ter
ENST00000591111.5:c.79133C>A (TTN)	ENSP00000465570.1:p.Ser26378Ter
ENST00000615779.4:c.79133C>A (TTN)	ENSP00000483597.1:p.Ser26378Ter
NM_001256850.1:c.79133C>A (TTN)	NP_001243779.1:p.Ser26378Ter
NM_001267550.2:c.84056C>A (TTN) MANE Select	NP_001254479.2:p.Ser28019Ter
NM_003319.4:c.56861C>A (TTN)	NP_003310.4:p.Ser18954Ter
NM_133378.4:c.76352C>A (TTN)	NP_596869.4:p.Ser25451Ter
NM_133432.3:c.57236C>A (TTN)	NP_597676.3:p.Ser19079Ter
NM_133437.4:c.57437C>A (TTN)	NP_597681.4:p.Ser19146Ter
NR_038271.1:n.447-9224G>T (TTN-AS1)
NR_038272.1:n.2043+19715G>T (TTN-AS1)
XM_011511729.1:c.83153C>A (TTN)	XP_011510031.1:p.Ser27718Ter
XM_011511730.1:c.57047C>A (TTN)	XP_011510032.1:p.Ser19016Ter
XM_011511731.1:c.56906C>A (TTN)	XP_011510033.1:p.Ser18969Ter
XM_017004819.1:c.82949C>A (TTN)	XP_016860308.1:p.Ser27650Ter
XM_017004820.1:c.78347C>A (TTN)	XP_016860309.1:p.Ser26116Ter
XM_017004821.1:c.78344C>A (TTN)	XP_016860310.1:p.Ser26115Ter
XM_017004822.1:c.75386C>A (TTN)	XP_016860311.1:p.Ser25129Ter
XM_017004823.1:c.57002C>A (TTN)	XP_016860312.1:p.Ser19001Ter
XM_024453094.1:c.78497C>A (TTN)	XP_024308862.1:p.Ser26166Ter
XM_024453095.1:c.78494C>A (TTN)	XP_024308863.1:p.Ser26165Ter
XM_024453096.1:c.77927C>A (TTN)	XP_024308864.1:p.Ser25976Ter
XM_024453097.1:c.75269C>A (TTN)	XP_024308865.1:p.Ser25090Ter
XM_024453098.1:c.75188C>A (TTN)	XP_024308866.1:p.Ser25063Ter
XM_024453099.1:c.56951C>A (TTN)	XP_024308867.1:p.Ser18984Ter
XM_024453100.1:c.46805C>A (TTN)	XP_024308868.1:p.Ser15602Ter