Canonical Allele Identifier: CA60995897

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs889930941
• gnomAD v2: 2-179435375-T-C
• MyVariant Identifiers: chr2:g.179435375T>C (hg19) ; chr2:g.178570648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570648T>C , CM000664.2:g.178570648T>C	GRCh38
NC_000002.11:g.179435375T>C , CM000664.1:g.179435375T>C	GRCh37
NC_000002.10:g.179143621T>C	NCBI36
NG_011618.3:g.265155A>G , LRG_391:g.265155A>G
NG_051363.1:g.52822T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67780A>G (TTN)	ENSP00000343764.6:p.Ser22594Gly
ENST00000342175.11:c.48865A>G (TTN)	ENSP00000340554.6:p.Ser16289Gly
ENST00000359218.10:c.48664A>G (TTN)	ENSP00000352154.5:p.Ser16222Gly
ENST00000342175.10:c.48865A>G (TTN)	ENSP00000340554.6:p.Ser16289Gly
ENST00000342992.10:c.67780A>G (TTN)	ENSP00000343764.6:p.Ser22594Gly
ENST00000359218.9:c.48664A>G (TTN)	ENSP00000352154.5:p.Ser16222Gly
ENST00000460472.6:c.48289A>G (TTN)	ENSP00000434586.1:p.Ser16097Gly
ENST00000589042.5:c.75484A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser25162Gly
ENST00000591111.5:c.70561A>G (TTN)	ENSP00000465570.1:p.Ser23521Gly
ENST00000615779.4:c.70561A>G (TTN)	ENSP00000483597.1:p.Ser23521Gly
NM_001256850.1:c.70561A>G (TTN)	NP_001243779.1:p.Ser23521Gly
NM_001267550.2:c.75484A>G (TTN) MANE Select	NP_001254479.2:p.Ser25162Gly
NM_003319.4:c.48289A>G (TTN)	NP_003310.4:p.Ser16097Gly
NM_133378.4:c.67780A>G (TTN)	NP_596869.4:p.Ser22594Gly
NM_133432.3:c.48664A>G (TTN)	NP_597676.3:p.Ser16222Gly
NM_133437.4:c.48865A>G (TTN)	NP_597681.4:p.Ser16289Gly
NR_038271.1:n.447-652T>C (TTN-AS1)
NR_038272.1:n.2044-11924T>C (TTN-AS1)
XM_011511729.1:c.74581A>G (TTN)	XP_011510031.1:p.Ser24861Gly
XM_011511730.1:c.48475A>G (TTN)	XP_011510032.1:p.Ser16159Gly
XM_011511731.1:c.48334A>G (TTN)	XP_011510033.1:p.Ser16112Gly
XM_017004819.1:c.74377A>G (TTN)	XP_016860308.1:p.Ser24793Gly
XM_017004820.1:c.69775A>G (TTN)	XP_016860309.1:p.Ser23259Gly
XM_017004821.1:c.69772A>G (TTN)	XP_016860310.1:p.Ser23258Gly
XM_017004822.1:c.66814A>G (TTN)	XP_016860311.1:p.Ser22272Gly
XM_017004823.1:c.48430A>G (TTN)	XP_016860312.1:p.Ser16144Gly
XM_024453094.1:c.69925A>G (TTN)	XP_024308862.1:p.Ser23309Gly
XM_024453095.1:c.69922A>G (TTN)	XP_024308863.1:p.Ser23308Gly
XM_024453096.1:c.69355A>G (TTN)	XP_024308864.1:p.Ser23119Gly
XM_024453097.1:c.66697A>G (TTN)	XP_024308865.1:p.Ser22233Gly
XM_024453098.1:c.66616A>G (TTN)	XP_024308866.1:p.Ser22206Gly
XM_024453099.1:c.48379A>G (TTN)	XP_024308867.1:p.Ser16127Gly
XM_024453100.1:c.38233A>G (TTN)	XP_024308868.1:p.Ser12745Gly