Canonical Allele Identifier: CA60993677

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs796679519
• gnomAD v4: 2-178569422-A-G
• MyVariant Identifiers: chr2:g.179434149A>G (hg19) ; chr2:g.178569422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569422A>G , CM000664.2:g.178569422A>G	GRCh38
NC_000002.11:g.179434149A>G , CM000664.1:g.179434149A>G	GRCh37
NC_000002.10:g.179142395A>G	NCBI36
NG_011618.3:g.266381T>C , LRG_391:g.266381T>C
NG_051363.1:g.51596A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69006T>C (TTN)	ENSP00000343764.6:p.Asn23002=
ENST00000342175.11:c.50091T>C (TTN)	ENSP00000340554.6:p.Asn16697=
ENST00000359218.10:c.49890T>C (TTN)	ENSP00000352154.5:p.Asn16630=
ENST00000342175.10:c.50091T>C (TTN)	ENSP00000340554.6:p.Asn16697=
ENST00000342992.10:c.69006T>C (TTN)	ENSP00000343764.6:p.Asn23002=
ENST00000359218.9:c.49890T>C (TTN)	ENSP00000352154.5:p.Asn16630=
ENST00000460472.6:c.49515T>C (TTN)	ENSP00000434586.1:p.Asn16505=
ENST00000589042.5:c.76710T>C (TTN) MANE Select	ENSP00000467141.1:p.Asn25570=
ENST00000591111.5:c.71787T>C (TTN)	ENSP00000465570.1:p.Asn23929=
ENST00000615779.4:c.71787T>C (TTN)	ENSP00000483597.1:p.Asn23929=
NM_001256850.1:c.71787T>C (TTN)	NP_001243779.1:p.Asn23929=
NM_001267550.2:c.76710T>C (TTN) MANE Select	NP_001254479.2:p.Asn25570=
NM_003319.4:c.49515T>C (TTN)	NP_003310.4:p.Asn16505=
NM_133378.4:c.69006T>C (TTN)	NP_596869.4:p.Asn23002=
NM_133432.3:c.49890T>C (TTN)	NP_597676.3:p.Asn16630=
NM_133437.4:c.50091T>C (TTN)	NP_597681.4:p.Asn16697=
NR_038271.1:n.447-1878A>G (TTN-AS1)
NR_038272.1:n.2044-13150A>G (TTN-AS1)
XM_011511729.1:c.75807T>C (TTN)	XP_011510031.1:p.Asn25269=
XM_011511730.1:c.49701T>C (TTN)	XP_011510032.1:p.Asn16567=
XM_011511731.1:c.49560T>C (TTN)	XP_011510033.1:p.Asn16520=
XM_017004819.1:c.75603T>C (TTN)	XP_016860308.1:p.Asn25201=
XM_017004820.1:c.71001T>C (TTN)	XP_016860309.1:p.Asn23667=
XM_017004821.1:c.70998T>C (TTN)	XP_016860310.1:p.Asn23666=
XM_017004822.1:c.68040T>C (TTN)	XP_016860311.1:p.Asn22680=
XM_017004823.1:c.49656T>C (TTN)	XP_016860312.1:p.Asn16552=
XM_024453094.1:c.71151T>C (TTN)	XP_024308862.1:p.Asn23717=
XM_024453095.1:c.71148T>C (TTN)	XP_024308863.1:p.Asn23716=
XM_024453096.1:c.70581T>C (TTN)	XP_024308864.1:p.Asn23527=
XM_024453097.1:c.67923T>C (TTN)	XP_024308865.1:p.Asn22641=
XM_024453098.1:c.67842T>C (TTN)	XP_024308866.1:p.Asn22614=
XM_024453099.1:c.49605T>C (TTN)	XP_024308867.1:p.Asn16535=
XM_024453100.1:c.39459T>C (TTN)	XP_024308868.1:p.Asn13153=