Canonical Allele Identifier: CA1986820

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs773714477
• ExAC: 2:179408817 A / G
• gnomAD v2: 2-179408817-A-G
• gnomAD v4: 2-178544090-A-G
• MyVariant Identifiers: chr2:g.179408817A>G (hg19) ; chr2:g.178544090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544090A>G , CM000664.2:g.178544090A>G	GRCh38
NC_000002.11:g.179408817A>G , CM000664.1:g.179408817A>G	GRCh37
NC_000002.10:g.179117063A>G	NCBI36
NG_011618.3:g.291713T>C , LRG_391:g.291713T>C
NG_051363.1:g.26264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88350T>C (TTN)	ENSP00000343764.6:p.Asp29450=
ENST00000342175.11:c.69435T>C (TTN)	ENSP00000340554.6:p.Asp23145=
ENST00000359218.10:c.69234T>C (TTN)	ENSP00000352154.5:p.Asp23078=
ENST00000342175.10:c.69435T>C (TTN)	ENSP00000340554.6:p.Asp23145=
ENST00000342992.10:c.88350T>C (TTN)	ENSP00000343764.6:p.Asp29450=
ENST00000359218.9:c.69234T>C (TTN)	ENSP00000352154.5:p.Asp23078=
ENST00000460472.6:c.68859T>C (TTN)	ENSP00000434586.1:p.Asp22953=
ENST00000589042.5:c.96054T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp32018=
ENST00000591111.5:c.91131T>C (TTN)	ENSP00000465570.1:p.Asp30377=
ENST00000615779.4:c.91131T>C (TTN)	ENSP00000483597.1:p.Asp30377=
NM_001256850.1:c.91131T>C (TTN)	NP_001243779.1:p.Asp30377=
NM_001267550.2:c.96054T>C (TTN) MANE Select	NP_001254479.2:p.Asp32018=
NM_003319.4:c.68859T>C (TTN)	NP_003310.4:p.Asp22953=
NM_133378.4:c.88350T>C (TTN)	NP_596869.4:p.Asp29450=
NM_133432.3:c.69234T>C (TTN)	NP_597676.3:p.Asp23078=
NM_133437.4:c.69435T>C (TTN)	NP_597681.4:p.Asp23145=
NR_038271.1:n.446+20454A>G (TTN-AS1)
NR_038272.1:n.2043+1729A>G (TTN-AS1)
XM_011511729.1:c.95151T>C (TTN)	XP_011510031.1:p.Asp31717=
XM_011511730.1:c.69045T>C (TTN)	XP_011510032.1:p.Asp23015=
XM_011511731.1:c.68904T>C (TTN)	XP_011510033.1:p.Asp22968=
XM_017004819.1:c.94947T>C (TTN)	XP_016860308.1:p.Asp31649=
XM_017004820.1:c.90345T>C (TTN)	XP_016860309.1:p.Asp30115=
XM_017004821.1:c.90342T>C (TTN)	XP_016860310.1:p.Asp30114=
XM_017004822.1:c.87384T>C (TTN)	XP_016860311.1:p.Asp29128=
XM_017004823.1:c.69000T>C (TTN)	XP_016860312.1:p.Asp23000=
XM_024453094.1:c.90495T>C (TTN)	XP_024308862.1:p.Asp30165=
XM_024453095.1:c.90492T>C (TTN)	XP_024308863.1:p.Asp30164=
XM_024453096.1:c.89925T>C (TTN)	XP_024308864.1:p.Asp29975=
XM_024453097.1:c.87267T>C (TTN)	XP_024308865.1:p.Asp29089=
XM_024453098.1:c.87186T>C (TTN)	XP_024308866.1:p.Asp29062=
XM_024453099.1:c.68949T>C (TTN)	XP_024308867.1:p.Asp22983=
XM_024453100.1:c.58803T>C (TTN)	XP_024308868.1:p.Asp19601=