Canonical Allele Identifier: CA349544176

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559752-C-G
• MyVariant Identifiers: chr2:g.179424479C>G (hg19) ; chr2:g.178559752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559752C>G , CM000664.2:g.178559752C>G	GRCh38
NC_000002.11:g.179424479C>G , CM000664.1:g.179424479C>G	GRCh37
NC_000002.10:g.179132725C>G	NCBI36
NG_011618.3:g.276051G>C , LRG_391:g.276051G>C
NG_051363.1:g.41926C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78676G>C (TTN)	ENSP00000343764.6:p.Asp26226His
ENST00000342175.11:c.59761G>C (TTN)	ENSP00000340554.6:p.Asp19921His
ENST00000359218.10:c.59560G>C (TTN)	ENSP00000352154.5:p.Asp19854His
ENST00000342175.10:c.59761G>C (TTN)	ENSP00000340554.6:p.Asp19921His
ENST00000342992.10:c.78676G>C (TTN)	ENSP00000343764.6:p.Asp26226His
ENST00000359218.9:c.59560G>C (TTN)	ENSP00000352154.5:p.Asp19854His
ENST00000460472.6:c.59185G>C (TTN)	ENSP00000434586.1:p.Asp19729His
ENST00000589042.5:c.86380G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp28794His
ENST00000591111.5:c.81457G>C (TTN)	ENSP00000465570.1:p.Asp27153His
ENST00000615779.4:c.81457G>C (TTN)	ENSP00000483597.1:p.Asp27153His
NM_001256850.1:c.81457G>C (TTN)	NP_001243779.1:p.Asp27153His
NM_001267550.2:c.86380G>C (TTN) MANE Select	NP_001254479.2:p.Asp28794His
NM_003319.4:c.59185G>C (TTN)	NP_003310.4:p.Asp19729His
NM_133378.4:c.78676G>C (TTN)	NP_596869.4:p.Asp26226His
NM_133432.3:c.59560G>C (TTN)	NP_597676.3:p.Asp19854His
NM_133437.4:c.59761G>C (TTN)	NP_597681.4:p.Asp19921His
NR_038271.1:n.447-11548C>G (TTN-AS1)
NR_038272.1:n.2043+17391C>G (TTN-AS1)
XM_011511729.1:c.85477G>C (TTN)	XP_011510031.1:p.Asp28493His
XM_011511730.1:c.59371G>C (TTN)	XP_011510032.1:p.Asp19791His
XM_011511731.1:c.59230G>C (TTN)	XP_011510033.1:p.Asp19744His
XM_017004819.1:c.85273G>C (TTN)	XP_016860308.1:p.Asp28425His
XM_017004820.1:c.80671G>C (TTN)	XP_016860309.1:p.Asp26891His
XM_017004821.1:c.80668G>C (TTN)	XP_016860310.1:p.Asp26890His
XM_017004822.1:c.77710G>C (TTN)	XP_016860311.1:p.Asp25904His
XM_017004823.1:c.59326G>C (TTN)	XP_016860312.1:p.Asp19776His
XM_024453094.1:c.80821G>C (TTN)	XP_024308862.1:p.Asp26941His
XM_024453095.1:c.80818G>C (TTN)	XP_024308863.1:p.Asp26940His
XM_024453096.1:c.80251G>C (TTN)	XP_024308864.1:p.Asp26751His
XM_024453097.1:c.77593G>C (TTN)	XP_024308865.1:p.Asp25865His
XM_024453098.1:c.77512G>C (TTN)	XP_024308866.1:p.Asp25838His
XM_024453099.1:c.59275G>C (TTN)	XP_024308867.1:p.Asp19759His
XM_024453100.1:c.49129G>C (TTN)	XP_024308868.1:p.Asp16377His