Canonical Allele Identifier: CA349454952

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467681
• ClinVar RCV Id: RCV000528847
• dbSNP Id: rs1553519065
• MyVariant Identifiers: chr2:g.179408945T>C (hg19) ; chr2:g.178544218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544218T>C , CM000664.2:g.178544218T>C	GRCh38
NC_000002.11:g.179408945T>C , CM000664.1:g.179408945T>C	GRCh37
NC_000002.10:g.179117191T>C	NCBI36
NG_011618.3:g.291585A>G , LRG_391:g.291585A>G
NG_051363.1:g.26392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88307A>G (TTN)	ENSP00000343764.6:p.Glu29436Gly
ENST00000342175.11:c.69392A>G (TTN)	ENSP00000340554.6:p.Glu23131Gly
ENST00000359218.10:c.69191A>G (TTN)	ENSP00000352154.5:p.Glu23064Gly
ENST00000342175.10:c.69392A>G (TTN)	ENSP00000340554.6:p.Glu23131Gly
ENST00000342992.10:c.88307A>G (TTN)	ENSP00000343764.6:p.Glu29436Gly
ENST00000359218.9:c.69191A>G (TTN)	ENSP00000352154.5:p.Glu23064Gly
ENST00000460472.6:c.68816A>G (TTN)	ENSP00000434586.1:p.Glu22939Gly
ENST00000589042.5:c.96011A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu32004Gly
ENST00000591111.5:c.91088A>G (TTN)	ENSP00000465570.1:p.Glu30363Gly
ENST00000615779.4:c.91088A>G (TTN)	ENSP00000483597.1:p.Glu30363Gly
NM_001256850.1:c.91088A>G (TTN)	NP_001243779.1:p.Glu30363Gly
NM_001267550.2:c.96011A>G (TTN) MANE Select	NP_001254479.2:p.Glu32004Gly
NM_003319.4:c.68816A>G (TTN)	NP_003310.4:p.Glu22939Gly
NM_133378.4:c.88307A>G (TTN)	NP_596869.4:p.Glu29436Gly
NM_133432.3:c.69191A>G (TTN)	NP_597676.3:p.Glu23064Gly
NM_133437.4:c.69392A>G (TTN)	NP_597681.4:p.Glu23131Gly
NR_038271.1:n.446+20582T>C (TTN-AS1)
NR_038272.1:n.2043+1857T>C (TTN-AS1)
XM_011511729.1:c.95108A>G (TTN)	XP_011510031.1:p.Glu31703Gly
XM_011511730.1:c.69002A>G (TTN)	XP_011510032.1:p.Glu23001Gly
XM_011511731.1:c.68861A>G (TTN)	XP_011510033.1:p.Glu22954Gly
XM_017004819.1:c.94904A>G (TTN)	XP_016860308.1:p.Glu31635Gly
XM_017004820.1:c.90302A>G (TTN)	XP_016860309.1:p.Glu30101Gly
XM_017004821.1:c.90299A>G (TTN)	XP_016860310.1:p.Glu30100Gly
XM_017004822.1:c.87341A>G (TTN)	XP_016860311.1:p.Glu29114Gly
XM_017004823.1:c.68957A>G (TTN)	XP_016860312.1:p.Glu22986Gly
XM_024453094.1:c.90452A>G (TTN)	XP_024308862.1:p.Glu30151Gly
XM_024453095.1:c.90449A>G (TTN)	XP_024308863.1:p.Glu30150Gly
XM_024453096.1:c.89882A>G (TTN)	XP_024308864.1:p.Glu29961Gly
XM_024453097.1:c.87224A>G (TTN)	XP_024308865.1:p.Glu29075Gly
XM_024453098.1:c.87143A>G (TTN)	XP_024308866.1:p.Glu29048Gly
XM_024453099.1:c.68906A>G (TTN)	XP_024308867.1:p.Glu22969Gly
XM_024453100.1:c.58760A>G (TTN)	XP_024308868.1:p.Glu19587Gly