Canonical Allele Identifier: CA430241653

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs774364063
• gnomAD v2: 2-179408947-A-G
• gnomAD v4: 2-178544220-A-G
• MyVariant Identifiers: chr2:g.179408947A>G (hg19) ; chr2:g.178544220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544220A>G , CM000664.2:g.178544220A>G	GRCh38
NC_000002.11:g.179408947A>G , CM000664.1:g.179408947A>G	GRCh37
NC_000002.10:g.179117193A>G	NCBI36
NG_011618.3:g.291583T>C , LRG_391:g.291583T>C
NG_051363.1:g.26394A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88305T>C (TTN)	ENSP00000343764.6:p.Ile29435=
ENST00000342175.11:c.69390T>C (TTN)	ENSP00000340554.6:p.Ile23130=
ENST00000359218.10:c.69189T>C (TTN)	ENSP00000352154.5:p.Ile23063=
ENST00000342175.10:c.69390T>C (TTN)	ENSP00000340554.6:p.Ile23130=
ENST00000342992.10:c.88305T>C (TTN)	ENSP00000343764.6:p.Ile29435=
ENST00000359218.9:c.69189T>C (TTN)	ENSP00000352154.5:p.Ile23063=
ENST00000460472.6:c.68814T>C (TTN)	ENSP00000434586.1:p.Ile22938=
ENST00000589042.5:c.96009T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile32003=
ENST00000591111.5:c.91086T>C (TTN)	ENSP00000465570.1:p.Ile30362=
ENST00000615779.4:c.91086T>C (TTN)	ENSP00000483597.1:p.Ile30362=
NM_001256850.1:c.91086T>C (TTN)	NP_001243779.1:p.Ile30362=
NM_001267550.2:c.96009T>C (TTN) MANE Select	NP_001254479.2:p.Ile32003=
NM_003319.4:c.68814T>C (TTN)	NP_003310.4:p.Ile22938=
NM_133378.4:c.88305T>C (TTN)	NP_596869.4:p.Ile29435=
NM_133432.3:c.69189T>C (TTN)	NP_597676.3:p.Ile23063=
NM_133437.4:c.69390T>C (TTN)	NP_597681.4:p.Ile23130=
NR_038271.1:n.446+20584A>G (TTN-AS1)
NR_038272.1:n.2043+1859A>G (TTN-AS1)
XM_011511729.1:c.95106T>C (TTN)	XP_011510031.1:p.Ile31702=
XM_011511730.1:c.69000T>C (TTN)	XP_011510032.1:p.Ile23000=
XM_011511731.1:c.68859T>C (TTN)	XP_011510033.1:p.Ile22953=
XM_017004819.1:c.94902T>C (TTN)	XP_016860308.1:p.Ile31634=
XM_017004820.1:c.90300T>C (TTN)	XP_016860309.1:p.Ile30100=
XM_017004821.1:c.90297T>C (TTN)	XP_016860310.1:p.Ile30099=
XM_017004822.1:c.87339T>C (TTN)	XP_016860311.1:p.Ile29113=
XM_017004823.1:c.68955T>C (TTN)	XP_016860312.1:p.Ile22985=
XM_024453094.1:c.90450T>C (TTN)	XP_024308862.1:p.Ile30150=
XM_024453095.1:c.90447T>C (TTN)	XP_024308863.1:p.Ile30149=
XM_024453096.1:c.89880T>C (TTN)	XP_024308864.1:p.Ile29960=
XM_024453097.1:c.87222T>C (TTN)	XP_024308865.1:p.Ile29074=
XM_024453098.1:c.87141T>C (TTN)	XP_024308866.1:p.Ile29047=
XM_024453099.1:c.68904T>C (TTN)	XP_024308867.1:p.Ile22968=
XM_024453100.1:c.58758T>C (TTN)	XP_024308868.1:p.Ile19586=