Canonical Allele Identifier: CA1990847

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1204714
• ClinVar RCV Id: RCV001571145
• dbSNP Id: rs371752797
• ExAC: 2:179440820 C / G
• gnomAD v2: 2-179440820-C-G
• gnomAD v3: 2-178576093-C-G
• gnomAD v4: 2-178576093-C-G
• MyVariant Identifiers: chr2:g.179440820C>G (hg19) ; chr2:g.178576093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576093C>G , CM000664.2:g.178576093C>G	GRCh38
NC_000002.11:g.179440820C>G , CM000664.1:g.179440820C>G	GRCh37
NC_000002.10:g.179149066C>G	NCBI36
NG_011618.3:g.259710G>C , LRG_391:g.259710G>C
NG_051363.1:g.58267C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62335G>C (TTN)	ENSP00000343764.6:p.Asp20779His
ENST00000342175.11:c.43420G>C (TTN)	ENSP00000340554.6:p.Asp14474His
ENST00000359218.10:c.43219G>C (TTN)	ENSP00000352154.5:p.Asp14407His
ENST00000342175.10:c.43420G>C (TTN)	ENSP00000340554.6:p.Asp14474His
ENST00000342992.10:c.62335G>C (TTN)	ENSP00000343764.6:p.Asp20779His
ENST00000359218.9:c.43219G>C (TTN)	ENSP00000352154.5:p.Asp14407His
ENST00000460472.6:c.42844G>C (TTN)	ENSP00000434586.1:p.Asp14282His
ENST00000589042.5:c.70039G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp23347His
ENST00000591111.5:c.65116G>C (TTN)	ENSP00000465570.1:p.Asp21706His
ENST00000615779.4:c.65116G>C (TTN)	ENSP00000483597.1:p.Asp21706His
NM_001256850.1:c.65116G>C (TTN)	NP_001243779.1:p.Asp21706His
NM_001267550.2:c.70039G>C (TTN) MANE Select	NP_001254479.2:p.Asp23347His
NM_003319.4:c.42844G>C (TTN)	NP_003310.4:p.Asp14282His
NM_133378.4:c.62335G>C (TTN)	NP_596869.4:p.Asp20779His
NM_133432.3:c.43219G>C (TTN)	NP_597676.3:p.Asp14407His
NM_133437.4:c.43420G>C (TTN)	NP_597681.4:p.Asp14474His
NR_038271.1:n.596+4644C>G (TTN-AS1)
NR_038272.1:n.2044-6479C>G (TTN-AS1)
XM_011511729.1:c.69136G>C (TTN)	XP_011510031.1:p.Asp23046His
XM_011511730.1:c.43030G>C (TTN)	XP_011510032.1:p.Asp14344His
XM_011511731.1:c.42889G>C (TTN)	XP_011510033.1:p.Asp14297His
XM_017004819.1:c.68932G>C (TTN)	XP_016860308.1:p.Asp22978His
XM_017004820.1:c.64330G>C (TTN)	XP_016860309.1:p.Asp21444His
XM_017004821.1:c.64327G>C (TTN)	XP_016860310.1:p.Asp21443His
XM_017004822.1:c.61369G>C (TTN)	XP_016860311.1:p.Asp20457His
XM_017004823.1:c.42985G>C (TTN)	XP_016860312.1:p.Asp14329His
XM_024453094.1:c.64480G>C (TTN)	XP_024308862.1:p.Asp21494His
XM_024453095.1:c.64477G>C (TTN)	XP_024308863.1:p.Asp21493His
XM_024453096.1:c.63910G>C (TTN)	XP_024308864.1:p.Asp21304His
XM_024453097.1:c.61252G>C (TTN)	XP_024308865.1:p.Asp20418His
XM_024453098.1:c.61171G>C (TTN)	XP_024308866.1:p.Asp20391His
XM_024453099.1:c.42934G>C (TTN)	XP_024308867.1:p.Asp14312His
XM_024453100.1:c.32788G>C (TTN)	XP_024308868.1:p.Asp10930His