Canonical Allele Identifier: CA1986866

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1116788
• ClinVar RCV Id: RCV001445292 ; RCV003298761
• dbSNP Id: rs370652120
• ExAC: 2:179409115 T / C
• gnomAD v2: 2-179409115-T-C
• gnomAD v3: 2-178544388-T-C
• gnomAD v4: 2-178544388-T-C
• MyVariant Identifiers: chr2:g.179409115T>C (hg19) ; chr2:g.178544388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544388T>C , CM000664.2:g.178544388T>C	GRCh38
NC_000002.11:g.179409115T>C , CM000664.1:g.179409115T>C	GRCh37
NC_000002.10:g.179117361T>C	NCBI36
NG_011618.3:g.291415A>G , LRG_391:g.291415A>G
NG_051363.1:g.26562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88137A>G (TTN)	ENSP00000343764.6:p.Glu29379=
ENST00000342175.11:c.69222A>G (TTN)	ENSP00000340554.6:p.Glu23074=
ENST00000359218.10:c.69021A>G (TTN)	ENSP00000352154.5:p.Glu23007=
ENST00000342175.10:c.69222A>G (TTN)	ENSP00000340554.6:p.Glu23074=
ENST00000342992.10:c.88137A>G (TTN)	ENSP00000343764.6:p.Glu29379=
ENST00000359218.9:c.69021A>G (TTN)	ENSP00000352154.5:p.Glu23007=
ENST00000460472.6:c.68646A>G (TTN)	ENSP00000434586.1:p.Glu22882=
ENST00000589042.5:c.95841A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu31947=
ENST00000591111.5:c.90918A>G (TTN)	ENSP00000465570.1:p.Glu30306=
ENST00000615779.4:c.90918A>G (TTN)	ENSP00000483597.1:p.Glu30306=
NM_001256850.1:c.90918A>G (TTN)	NP_001243779.1:p.Glu30306=
NM_001267550.2:c.95841A>G (TTN) MANE Select	NP_001254479.2:p.Glu31947=
NM_003319.4:c.68646A>G (TTN)	NP_003310.4:p.Glu22882=
NM_133378.4:c.88137A>G (TTN)	NP_596869.4:p.Glu29379=
NM_133432.3:c.69021A>G (TTN)	NP_597676.3:p.Glu23007=
NM_133437.4:c.69222A>G (TTN)	NP_597681.4:p.Glu23074=
NR_038271.1:n.446+20752T>C (TTN-AS1)
NR_038272.1:n.2043+2027T>C (TTN-AS1)
XM_011511729.1:c.94938A>G (TTN)	XP_011510031.1:p.Glu31646=
XM_011511730.1:c.68832A>G (TTN)	XP_011510032.1:p.Glu22944=
XM_011511731.1:c.68691A>G (TTN)	XP_011510033.1:p.Glu22897=
XM_017004819.1:c.94734A>G (TTN)	XP_016860308.1:p.Glu31578=
XM_017004820.1:c.90132A>G (TTN)	XP_016860309.1:p.Glu30044=
XM_017004821.1:c.90129A>G (TTN)	XP_016860310.1:p.Glu30043=
XM_017004822.1:c.87171A>G (TTN)	XP_016860311.1:p.Glu29057=
XM_017004823.1:c.68787A>G (TTN)	XP_016860312.1:p.Glu22929=
XM_024453094.1:c.90282A>G (TTN)	XP_024308862.1:p.Glu30094=
XM_024453095.1:c.90279A>G (TTN)	XP_024308863.1:p.Glu30093=
XM_024453096.1:c.89712A>G (TTN)	XP_024308864.1:p.Glu29904=
XM_024453097.1:c.87054A>G (TTN)	XP_024308865.1:p.Glu29018=
XM_024453098.1:c.86973A>G (TTN)	XP_024308866.1:p.Glu28991=
XM_024453099.1:c.68736A>G (TTN)	XP_024308867.1:p.Glu22912=
XM_024453100.1:c.58590A>G (TTN)	XP_024308868.1:p.Glu19530=