Canonical Allele Identifier: CA349604774

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478617C>G (hg19) ; chr2:g.178613890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613890C>G , CM000664.2:g.178613890C>G	GRCh38
NC_000002.11:g.179478617C>G , CM000664.1:g.179478617C>G	GRCh37
NC_000002.10:g.179186862C>G	NCBI36
NG_011618.3:g.221913G>C , LRG_391:g.221913G>C
NG_051363.1:g.96064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41689G>C (TTN)	ENSP00000343764.6:p.Asp13897His
ENST00000342175.11:c.22774G>C (TTN)	ENSP00000340554.6:p.Asp7592His
ENST00000359218.10:c.22573G>C (TTN)	ENSP00000352154.5:p.Asp7525His
ENST00000342175.10:c.22774G>C (TTN)	ENSP00000340554.6:p.Asp7592His
ENST00000342992.10:c.41689G>C (TTN)	ENSP00000343764.6:p.Asp13897His
ENST00000359218.9:c.22573G>C (TTN)	ENSP00000352154.5:p.Asp7525His
ENST00000460472.6:c.22198G>C (TTN)	ENSP00000434586.1:p.Asp7400His
ENST00000589042.5:c.49393G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp16465His
ENST00000591111.5:c.44470G>C (TTN)	ENSP00000465570.1:p.Asp14824His
ENST00000615779.4:c.44470G>C (TTN)	ENSP00000483597.1:p.Asp14824His
NM_001256850.1:c.44470G>C (TTN)	NP_001243779.1:p.Asp14824His
NM_001267550.2:c.49393G>C (TTN) MANE Select	NP_001254479.2:p.Asp16465His
NM_003319.4:c.22198G>C (TTN)	NP_003310.4:p.Asp7400His
NM_133378.4:c.41689G>C (TTN)	NP_596869.4:p.Asp13897His
NM_133432.3:c.22573G>C (TTN)	NP_597676.3:p.Asp7525His
NM_133437.4:c.22774G>C (TTN)	NP_597681.4:p.Asp7592His
NR_038271.1:n.783-145C>G (TTN-AS1)
XM_011511729.1:c.48490G>C (TTN)	XP_011510031.1:p.Asp16164His
XM_011511730.1:c.22384G>C (TTN)	XP_011510032.1:p.Asp7462His
XM_011511731.1:c.22243G>C (TTN)	XP_011510033.1:p.Asp7415His
XM_017004819.1:c.48286G>C (TTN)	XP_016860308.1:p.Asp16096His
XM_017004820.1:c.43684G>C (TTN)	XP_016860309.1:p.Asp14562His
XM_017004821.1:c.43681G>C (TTN)	XP_016860310.1:p.Asp14561His
XM_017004822.1:c.40723G>C (TTN)	XP_016860311.1:p.Asp13575His
XM_017004823.1:c.22339G>C (TTN)	XP_016860312.1:p.Asp7447His
XM_024453094.1:c.43834G>C (TTN)	XP_024308862.1:p.Asp14612His
XM_024453095.1:c.43831G>C (TTN)	XP_024308863.1:p.Asp14611His
XM_024453096.1:c.43264G>C (TTN)	XP_024308864.1:p.Asp14422His
XM_024453097.1:c.40606G>C (TTN)	XP_024308865.1:p.Asp13536His
XM_024453098.1:c.40525G>C (TTN)	XP_024308866.1:p.Asp13509His
XM_024453099.1:c.22288G>C (TTN)	XP_024308867.1:p.Asp7430His
XM_024453100.1:c.12142G>C (TTN)	XP_024308868.1:p.Asp4048His