Canonical Allele Identifier: CA349482402

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466670
• ClinVar RCV Id: RCV000554078 ; RCV001798880
• dbSNP Id: rs1243301263
• MyVariant Identifiers: chr2:g.179412812C>A (hg19) ; chr2:g.178548085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548085C>A , CM000664.2:g.178548085C>A	GRCh38
NC_000002.11:g.179412812C>A , CM000664.1:g.179412812C>A	GRCh37
NC_000002.10:g.179121058C>A	NCBI36
NG_011618.3:g.287718G>T , LRG_391:g.287718G>T
NG_051363.1:g.30259C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.85837G>T (TTN)	ENSP00000343764.6:p.Glu28613Ter
ENST00000342175.11:c.66922G>T (TTN)	ENSP00000340554.6:p.Glu22308Ter
ENST00000359218.10:c.66721G>T (TTN)	ENSP00000352154.5:p.Glu22241Ter
ENST00000342175.10:c.66922G>T (TTN)	ENSP00000340554.6:p.Glu22308Ter
ENST00000342992.10:c.85837G>T (TTN)	ENSP00000343764.6:p.Glu28613Ter
ENST00000359218.9:c.66721G>T (TTN)	ENSP00000352154.5:p.Glu22241Ter
ENST00000460472.6:c.66346G>T (TTN)	ENSP00000434586.1:p.Glu22116Ter
ENST00000589042.5:c.93541G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31181Ter
ENST00000591111.5:c.88618G>T (TTN)	ENSP00000465570.1:p.Glu29540Ter
ENST00000615779.4:c.88618G>T (TTN)	ENSP00000483597.1:p.Glu29540Ter
NM_001256850.1:c.88618G>T (TTN)	NP_001243779.1:p.Glu29540Ter
NM_001267550.2:c.93541G>T (TTN) MANE Select	NP_001254479.2:p.Glu31181Ter
NM_003319.4:c.66346G>T (TTN)	NP_003310.4:p.Glu22116Ter
NM_133378.4:c.85837G>T (TTN)	NP_596869.4:p.Glu28613Ter
NM_133432.3:c.66721G>T (TTN)	NP_597676.3:p.Glu22241Ter
NM_133437.4:c.66922G>T (TTN)	NP_597681.4:p.Glu22308Ter
NR_038271.1:n.447-23215C>A (TTN-AS1)
NR_038272.1:n.2043+5724C>A (TTN-AS1)
XM_011511729.1:c.92638G>T (TTN)	XP_011510031.1:p.Glu30880Ter
XM_011511730.1:c.66532G>T (TTN)	XP_011510032.1:p.Glu22178Ter
XM_011511731.1:c.66391G>T (TTN)	XP_011510033.1:p.Glu22131Ter
XM_017004819.1:c.92434G>T (TTN)	XP_016860308.1:p.Glu30812Ter
XM_017004820.1:c.87832G>T (TTN)	XP_016860309.1:p.Glu29278Ter
XM_017004821.1:c.87829G>T (TTN)	XP_016860310.1:p.Glu29277Ter
XM_017004822.1:c.84871G>T (TTN)	XP_016860311.1:p.Glu28291Ter
XM_017004823.1:c.66487G>T (TTN)	XP_016860312.1:p.Glu22163Ter
XM_024453094.1:c.87982G>T (TTN)	XP_024308862.1:p.Glu29328Ter
XM_024453095.1:c.87979G>T (TTN)	XP_024308863.1:p.Glu29327Ter
XM_024453096.1:c.87412G>T (TTN)	XP_024308864.1:p.Glu29138Ter
XM_024453097.1:c.84754G>T (TTN)	XP_024308865.1:p.Glu28252Ter
XM_024453098.1:c.84673G>T (TTN)	XP_024308866.1:p.Glu28225Ter
XM_024453099.1:c.66436G>T (TTN)	XP_024308867.1:p.Glu22146Ter
XM_024453100.1:c.56290G>T (TTN)	XP_024308868.1:p.Glu18764Ter