Canonical Allele Identifier: CA1995067

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs368190086
• ExAC: 2:179482771 A / G
• gnomAD v2: 2-179482771-A-G
• gnomAD v4: 2-178618044-A-G
• MyVariant Identifiers: chr2:g.179482771A>G (hg19) ; chr2:g.178618044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618044A>G , CM000664.2:g.178618044A>G	GRCh38
NC_000002.11:g.179482771A>G , CM000664.1:g.179482771A>G	GRCh37
NC_000002.10:g.179191016A>G	NCBI36
NG_011618.3:g.217759T>C , LRG_391:g.217759T>C
NG_051363.1:g.100218A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39603T>C (TTN)	ENSP00000343764.6:p.Asp13201=
ENST00000342175.11:c.20688T>C (TTN)	ENSP00000340554.6:p.Asp6896=
ENST00000359218.10:c.20487T>C (TTN)	ENSP00000352154.5:p.Asp6829=
ENST00000342175.10:c.20688T>C (TTN)	ENSP00000340554.6:p.Asp6896=
ENST00000342992.10:c.39603T>C (TTN)	ENSP00000343764.6:p.Asp13201=
ENST00000359218.9:c.20487T>C (TTN)	ENSP00000352154.5:p.Asp6829=
ENST00000460472.6:c.20112T>C (TTN)	ENSP00000434586.1:p.Asp6704=
ENST00000589042.5:c.47307T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp15769=
ENST00000591111.5:c.42384T>C (TTN)	ENSP00000465570.1:p.Asp14128=
ENST00000615779.4:c.42384T>C (TTN)	ENSP00000483597.1:p.Asp14128=
NM_001256850.1:c.42384T>C (TTN)	NP_001243779.1:p.Asp14128=
NM_001267550.2:c.47307T>C (TTN) MANE Select	NP_001254479.2:p.Asp15769=
NM_003319.4:c.20112T>C (TTN)	NP_003310.4:p.Asp6704=
NM_133378.4:c.39603T>C (TTN)	NP_596869.4:p.Asp13201=
NM_133432.3:c.20487T>C (TTN)	NP_597676.3:p.Asp6829=
NM_133437.4:c.20688T>C (TTN)	NP_597681.4:p.Asp6896=
NR_038271.1:n.1605-1709A>G (TTN-AS1)
XM_011511729.1:c.46404T>C (TTN)	XP_011510031.1:p.Asp15468=
XM_011511730.1:c.20298T>C (TTN)	XP_011510032.1:p.Asp6766=
XM_011511731.1:c.20157T>C (TTN)	XP_011510033.1:p.Asp6719=
XM_017004819.1:c.46200T>C (TTN)	XP_016860308.1:p.Asp15400=
XM_017004820.1:c.41598T>C (TTN)	XP_016860309.1:p.Asp13866=
XM_017004821.1:c.41595T>C (TTN)	XP_016860310.1:p.Asp13865=
XM_017004822.1:c.38637T>C (TTN)	XP_016860311.1:p.Asp12879=
XM_017004823.1:c.20253T>C (TTN)	XP_016860312.1:p.Asp6751=
XM_024453094.1:c.41748T>C (TTN)	XP_024308862.1:p.Asp13916=
XM_024453095.1:c.41745T>C (TTN)	XP_024308863.1:p.Asp13915=
XM_024453096.1:c.41178T>C (TTN)	XP_024308864.1:p.Asp13726=
XM_024453097.1:c.38520T>C (TTN)	XP_024308865.1:p.Asp12840=
XM_024453098.1:c.38439T>C (TTN)	XP_024308866.1:p.Asp12813=
XM_024453099.1:c.20202T>C (TTN)	XP_024308867.1:p.Asp6734=
XM_024453100.1:c.10056T>C (TTN)	XP_024308868.1:p.Asp3352=