Canonical Allele Identifier: CA349543443

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1412211195
• gnomAD v3: 2-178559649-T-C
• gnomAD v4: 2-178559649-T-C
• MyVariant Identifiers: chr2:g.179424376T>C (hg19) ; chr2:g.178559649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559649T>C , CM000664.2:g.178559649T>C	GRCh38
NC_000002.11:g.179424376T>C , CM000664.1:g.179424376T>C	GRCh37
NC_000002.10:g.179132622T>C	NCBI36
NG_011618.3:g.276154A>G , LRG_391:g.276154A>G
NG_051363.1:g.41823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78779A>G (TTN)	ENSP00000343764.6:p.Gln26260Arg
ENST00000342175.11:c.59864A>G (TTN)	ENSP00000340554.6:p.Gln19955Arg
ENST00000359218.10:c.59663A>G (TTN)	ENSP00000352154.5:p.Gln19888Arg
ENST00000342175.10:c.59864A>G (TTN)	ENSP00000340554.6:p.Gln19955Arg
ENST00000342992.10:c.78779A>G (TTN)	ENSP00000343764.6:p.Gln26260Arg
ENST00000359218.9:c.59663A>G (TTN)	ENSP00000352154.5:p.Gln19888Arg
ENST00000460472.6:c.59288A>G (TTN)	ENSP00000434586.1:p.Gln19763Arg
ENST00000589042.5:c.86483A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln28828Arg
ENST00000591111.5:c.81560A>G (TTN)	ENSP00000465570.1:p.Gln27187Arg
ENST00000615779.4:c.81560A>G (TTN)	ENSP00000483597.1:p.Gln27187Arg
NM_001256850.1:c.81560A>G (TTN)	NP_001243779.1:p.Gln27187Arg
NM_001267550.2:c.86483A>G (TTN) MANE Select	NP_001254479.2:p.Gln28828Arg
NM_003319.4:c.59288A>G (TTN)	NP_003310.4:p.Gln19763Arg
NM_133378.4:c.78779A>G (TTN)	NP_596869.4:p.Gln26260Arg
NM_133432.3:c.59663A>G (TTN)	NP_597676.3:p.Gln19888Arg
NM_133437.4:c.59864A>G (TTN)	NP_597681.4:p.Gln19955Arg
NR_038271.1:n.447-11651T>C (TTN-AS1)
NR_038272.1:n.2043+17288T>C (TTN-AS1)
XM_011511729.1:c.85580A>G (TTN)	XP_011510031.1:p.Gln28527Arg
XM_011511730.1:c.59474A>G (TTN)	XP_011510032.1:p.Gln19825Arg
XM_011511731.1:c.59333A>G (TTN)	XP_011510033.1:p.Gln19778Arg
XM_017004819.1:c.85376A>G (TTN)	XP_016860308.1:p.Gln28459Arg
XM_017004820.1:c.80774A>G (TTN)	XP_016860309.1:p.Gln26925Arg
XM_017004821.1:c.80771A>G (TTN)	XP_016860310.1:p.Gln26924Arg
XM_017004822.1:c.77813A>G (TTN)	XP_016860311.1:p.Gln25938Arg
XM_017004823.1:c.59429A>G (TTN)	XP_016860312.1:p.Gln19810Arg
XM_024453094.1:c.80924A>G (TTN)	XP_024308862.1:p.Gln26975Arg
XM_024453095.1:c.80921A>G (TTN)	XP_024308863.1:p.Gln26974Arg
XM_024453096.1:c.80354A>G (TTN)	XP_024308864.1:p.Gln26785Arg
XM_024453097.1:c.77696A>G (TTN)	XP_024308865.1:p.Gln25899Arg
XM_024453098.1:c.77615A>G (TTN)	XP_024308866.1:p.Gln25872Arg
XM_024453099.1:c.59378A>G (TTN)	XP_024308867.1:p.Gln19793Arg
XM_024453100.1:c.49232A>G (TTN)	XP_024308868.1:p.Gln16411Arg