Canonical Allele Identifier: CA349398495

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1558953226
• gnomAD v4: 2-178527101-T-G
• MyVariant Identifiers: chr2:g.179391828T>G (hg19) ; chr2:g.178527101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527101T>G , CM000664.2:g.178527101T>G	GRCh38
NC_000002.11:g.179391828T>G , CM000664.1:g.179391828T>G	GRCh37
NC_000002.10:g.179100074T>G	NCBI36
NG_011618.3:g.308702A>C , LRG_391:g.308702A>C
NG_051363.1:g.9275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100183A>C (TTN)	ENSP00000343764.6:p.Lys33395Gln
ENST00000342175.11:c.81268A>C (TTN)	ENSP00000340554.6:p.Lys27090Gln
ENST00000359218.10:c.81067A>C (TTN)	ENSP00000352154.5:p.Lys27023Gln
ENST00000342175.10:c.81268A>C (TTN)	ENSP00000340554.6:p.Lys27090Gln
ENST00000342992.10:c.100183A>C (TTN)	ENSP00000343764.6:p.Lys33395Gln
ENST00000359218.9:c.81067A>C (TTN)	ENSP00000352154.5:p.Lys27023Gln
ENST00000460472.6:c.80692A>C (TTN)	ENSP00000434586.1:p.Lys26898Gln
ENST00000589042.5:c.107887A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35963Gln
ENST00000591111.5:c.102964A>C (TTN)	ENSP00000465570.1:p.Lys34322Gln
ENST00000615779.4:c.102964A>C (TTN)	ENSP00000483597.1:p.Lys34322Gln
NM_001256850.1:c.102964A>C (TTN)	NP_001243779.1:p.Lys34322Gln
NM_001267550.2:c.107887A>C (TTN) MANE Select	NP_001254479.2:p.Lys35963Gln
NM_003319.4:c.80692A>C (TTN)	NP_003310.4:p.Lys26898Gln
NM_133378.4:c.100183A>C (TTN)	NP_596869.4:p.Lys33395Gln
NM_133432.3:c.81067A>C (TTN)	NP_597676.3:p.Lys27023Gln
NM_133437.4:c.81268A>C (TTN)	NP_597681.4:p.Lys27090Gln
NR_038271.1:n.446+3465T>G (TTN-AS1)
NR_038272.1:n.219+3465T>G (TTN-AS1)
XM_011511729.1:c.106984A>C (TTN)	XP_011510031.1:p.Lys35662Gln
XM_011511730.1:c.80878A>C (TTN)	XP_011510032.1:p.Lys26960Gln
XM_011511731.1:c.80737A>C (TTN)	XP_011510033.1:p.Lys26913Gln
XM_017004819.1:c.106780A>C (TTN)	XP_016860308.1:p.Lys35594Gln
XM_017004820.1:c.102178A>C (TTN)	XP_016860309.1:p.Lys34060Gln
XM_017004821.1:c.102175A>C (TTN)	XP_016860310.1:p.Lys34059Gln
XM_017004822.1:c.99217A>C (TTN)	XP_016860311.1:p.Lys33073Gln
XM_017004823.1:c.80833A>C (TTN)	XP_016860312.1:p.Lys26945Gln
XM_024453094.1:c.102328A>C (TTN)	XP_024308862.1:p.Lys34110Gln
XM_024453095.1:c.102325A>C (TTN)	XP_024308863.1:p.Lys34109Gln
XM_024453096.1:c.101758A>C (TTN)	XP_024308864.1:p.Lys33920Gln
XM_024453097.1:c.99100A>C (TTN)	XP_024308865.1:p.Lys33034Gln
XM_024453098.1:c.99019A>C (TTN)	XP_024308866.1:p.Lys33007Gln
XM_024453099.1:c.80782A>C (TTN)	XP_024308867.1:p.Lys26928Gln
XM_024453100.1:c.70636A>C (TTN)	XP_024308868.1:p.Lys23546Gln