Canonical Allele Identifier: CA430235689

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2933180
• ClinVar RCV Id: RCV003790298
• gnomAD v4: 2-178530649-A-G
• MyVariant Identifiers: chr2:g.179395376A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530649A>G , CM000664.2:g.178530649A>G	GRCh38
NC_000002.11:g.179395376A>G , CM000664.1:g.179395376A>G	GRCh37
NC_000002.10:g.179103622A>G	NCBI36
NG_011618.3:g.305154T>C , LRG_391:g.305154T>C
NG_051363.1:g.12823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98262T>C (TTN)	ENSP00000343764.6:p.Asp32754=
ENST00000342175.11:c.79347T>C (TTN)	ENSP00000340554.6:p.Asp26449=
ENST00000359218.10:c.79146T>C (TTN)	ENSP00000352154.5:p.Asp26382=
ENST00000342175.10:c.79347T>C (TTN)	ENSP00000340554.6:p.Asp26449=
ENST00000342992.10:c.98262T>C (TTN)	ENSP00000343764.6:p.Asp32754=
ENST00000359218.9:c.79146T>C (TTN)	ENSP00000352154.5:p.Asp26382=
ENST00000460472.6:c.78771T>C (TTN)	ENSP00000434586.1:p.Asp26257=
ENST00000589042.5:c.105966T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35322=
ENST00000591111.5:c.101043T>C (TTN)	ENSP00000465570.1:p.Asp33681=
ENST00000615779.4:c.101043T>C (TTN)	ENSP00000483597.1:p.Asp33681=
NM_001256850.1:c.101043T>C (TTN)	NP_001243779.1:p.Asp33681=
NM_001267550.2:c.105966T>C (TTN) MANE Select	NP_001254479.2:p.Asp35322=
NM_003319.4:c.78771T>C (TTN)	NP_003310.4:p.Asp26257=
NM_133378.4:c.98262T>C (TTN)	NP_596869.4:p.Asp32754=
NM_133432.3:c.79146T>C (TTN)	NP_597676.3:p.Asp26382=
NM_133437.4:c.79347T>C (TTN)	NP_597681.4:p.Asp26449=
NR_038271.1:n.446+7013A>G (TTN-AS1)
NR_038272.1:n.220-5083A>G (TTN-AS1)
XM_011511729.1:c.105063T>C (TTN)	XP_011510031.1:p.Asp35021=
XM_011511730.1:c.78957T>C (TTN)	XP_011510032.1:p.Asp26319=
XM_011511731.1:c.78816T>C (TTN)	XP_011510033.1:p.Asp26272=
XM_017004819.1:c.104859T>C (TTN)	XP_016860308.1:p.Asp34953=
XM_017004820.1:c.100257T>C (TTN)	XP_016860309.1:p.Asp33419=
XM_017004821.1:c.100254T>C (TTN)	XP_016860310.1:p.Asp33418=
XM_017004822.1:c.97296T>C (TTN)	XP_016860311.1:p.Asp32432=
XM_017004823.1:c.78912T>C (TTN)	XP_016860312.1:p.Asp26304=
XM_024453094.1:c.100407T>C (TTN)	XP_024308862.1:p.Asp33469=
XM_024453095.1:c.100404T>C (TTN)	XP_024308863.1:p.Asp33468=
XM_024453096.1:c.99837T>C (TTN)	XP_024308864.1:p.Asp33279=
XM_024453097.1:c.97179T>C (TTN)	XP_024308865.1:p.Asp32393=
XM_024453098.1:c.97098T>C (TTN)	XP_024308866.1:p.Asp32366=
XM_024453099.1:c.78861T>C (TTN)	XP_024308867.1:p.Asp26287=
XM_024453100.1:c.68715T>C (TTN)	XP_024308868.1:p.Asp22905=