Canonical Allele Identifier: CA60995088

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1329195
• ClinVar RCV Id: RCV001799238
• dbSNP Id: rs998111823
• gnomAD v3: 2-178570557-T-C
• gnomAD v4: 2-178570557-T-C
• MyVariant Identifiers: chr2:g.179435284T>C (hg19) ; chr2:g.178570557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570557T>C , CM000664.2:g.178570557T>C	GRCh38
NC_000002.11:g.179435284T>C , CM000664.1:g.179435284T>C	GRCh37
NC_000002.10:g.179143530T>C	NCBI36
NG_011618.3:g.265246A>G , LRG_391:g.265246A>G
NG_051363.1:g.52731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67871A>G (TTN)	ENSP00000343764.6:p.Glu22624Gly
ENST00000342175.11:c.48956A>G (TTN)	ENSP00000340554.6:p.Glu16319Gly
ENST00000359218.10:c.48755A>G (TTN)	ENSP00000352154.5:p.Glu16252Gly
ENST00000342175.10:c.48956A>G (TTN)	ENSP00000340554.6:p.Glu16319Gly
ENST00000342992.10:c.67871A>G (TTN)	ENSP00000343764.6:p.Glu22624Gly
ENST00000359218.9:c.48755A>G (TTN)	ENSP00000352154.5:p.Glu16252Gly
ENST00000460472.6:c.48380A>G (TTN)	ENSP00000434586.1:p.Glu16127Gly
ENST00000589042.5:c.75575A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu25192Gly
ENST00000591111.5:c.70652A>G (TTN)	ENSP00000465570.1:p.Glu23551Gly
ENST00000615779.4:c.70652A>G (TTN)	ENSP00000483597.1:p.Glu23551Gly
NM_001256850.1:c.70652A>G (TTN)	NP_001243779.1:p.Glu23551Gly
NM_001267550.2:c.75575A>G (TTN) MANE Select	NP_001254479.2:p.Glu25192Gly
NM_003319.4:c.48380A>G (TTN)	NP_003310.4:p.Glu16127Gly
NM_133378.4:c.67871A>G (TTN)	NP_596869.4:p.Glu22624Gly
NM_133432.3:c.48755A>G (TTN)	NP_597676.3:p.Glu16252Gly
NM_133437.4:c.48956A>G (TTN)	NP_597681.4:p.Glu16319Gly
NR_038271.1:n.447-743T>C (TTN-AS1)
NR_038272.1:n.2044-12015T>C (TTN-AS1)
XM_011511729.1:c.74672A>G (TTN)	XP_011510031.1:p.Glu24891Gly
XM_011511730.1:c.48566A>G (TTN)	XP_011510032.1:p.Glu16189Gly
XM_011511731.1:c.48425A>G (TTN)	XP_011510033.1:p.Glu16142Gly
XM_017004819.1:c.74468A>G (TTN)	XP_016860308.1:p.Glu24823Gly
XM_017004820.1:c.69866A>G (TTN)	XP_016860309.1:p.Glu23289Gly
XM_017004821.1:c.69863A>G (TTN)	XP_016860310.1:p.Glu23288Gly
XM_017004822.1:c.66905A>G (TTN)	XP_016860311.1:p.Glu22302Gly
XM_017004823.1:c.48521A>G (TTN)	XP_016860312.1:p.Glu16174Gly
XM_024453094.1:c.70016A>G (TTN)	XP_024308862.1:p.Glu23339Gly
XM_024453095.1:c.70013A>G (TTN)	XP_024308863.1:p.Glu23338Gly
XM_024453096.1:c.69446A>G (TTN)	XP_024308864.1:p.Glu23149Gly
XM_024453097.1:c.66788A>G (TTN)	XP_024308865.1:p.Glu22263Gly
XM_024453098.1:c.66707A>G (TTN)	XP_024308866.1:p.Glu22236Gly
XM_024453099.1:c.48470A>G (TTN)	XP_024308867.1:p.Glu16157Gly
XM_024453100.1:c.38324A>G (TTN)	XP_024308868.1:p.Glu12775Gly