Canonical Allele Identifier: CA349503480

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551756-T-C
• MyVariant Identifiers: chr2:g.179416483T>C (hg19) ; chr2:g.178551756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551756T>C , CM000664.2:g.178551756T>C	GRCh38
NC_000002.11:g.179416483T>C , CM000664.1:g.179416483T>C	GRCh37
NC_000002.10:g.179124729T>C	NCBI36
NG_011618.3:g.284047A>G , LRG_391:g.284047A>G
NG_051363.1:g.33930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83440A>G (TTN)	ENSP00000343764.6:p.Arg27814Gly
ENST00000342175.11:c.64525A>G (TTN)	ENSP00000340554.6:p.Arg21509Gly
ENST00000359218.10:c.64324A>G (TTN)	ENSP00000352154.5:p.Arg21442Gly
ENST00000342175.10:c.64525A>G (TTN)	ENSP00000340554.6:p.Arg21509Gly
ENST00000342992.10:c.83440A>G (TTN)	ENSP00000343764.6:p.Arg27814Gly
ENST00000359218.9:c.64324A>G (TTN)	ENSP00000352154.5:p.Arg21442Gly
ENST00000460472.6:c.63949A>G (TTN)	ENSP00000434586.1:p.Arg21317Gly
ENST00000589042.5:c.91144A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg30382Gly
ENST00000591111.5:c.86221A>G (TTN)	ENSP00000465570.1:p.Arg28741Gly
ENST00000615779.4:c.86221A>G (TTN)	ENSP00000483597.1:p.Arg28741Gly
NM_001256850.1:c.86221A>G (TTN)	NP_001243779.1:p.Arg28741Gly
NM_001267550.2:c.91144A>G (TTN) MANE Select	NP_001254479.2:p.Arg30382Gly
NM_003319.4:c.63949A>G (TTN)	NP_003310.4:p.Arg21317Gly
NM_133378.4:c.83440A>G (TTN)	NP_596869.4:p.Arg27814Gly
NM_133432.3:c.64324A>G (TTN)	NP_597676.3:p.Arg21442Gly
NM_133437.4:c.64525A>G (TTN)	NP_597681.4:p.Arg21509Gly
NR_038271.1:n.447-19544T>C (TTN-AS1)
NR_038272.1:n.2043+9395T>C (TTN-AS1)
XM_011511729.1:c.90241A>G (TTN)	XP_011510031.1:p.Arg30081Gly
XM_011511730.1:c.64135A>G (TTN)	XP_011510032.1:p.Arg21379Gly
XM_011511731.1:c.63994A>G (TTN)	XP_011510033.1:p.Arg21332Gly
XM_017004819.1:c.90037A>G (TTN)	XP_016860308.1:p.Arg30013Gly
XM_017004820.1:c.85435A>G (TTN)	XP_016860309.1:p.Arg28479Gly
XM_017004821.1:c.85432A>G (TTN)	XP_016860310.1:p.Arg28478Gly
XM_017004822.1:c.82474A>G (TTN)	XP_016860311.1:p.Arg27492Gly
XM_017004823.1:c.64090A>G (TTN)	XP_016860312.1:p.Arg21364Gly
XM_024453094.1:c.85585A>G (TTN)	XP_024308862.1:p.Arg28529Gly
XM_024453095.1:c.85582A>G (TTN)	XP_024308863.1:p.Arg28528Gly
XM_024453096.1:c.85015A>G (TTN)	XP_024308864.1:p.Arg28339Gly
XM_024453097.1:c.82357A>G (TTN)	XP_024308865.1:p.Arg27453Gly
XM_024453098.1:c.82276A>G (TTN)	XP_024308866.1:p.Arg27426Gly
XM_024453099.1:c.64039A>G (TTN)	XP_024308867.1:p.Arg21347Gly
XM_024453100.1:c.53893A>G (TTN)	XP_024308868.1:p.Arg17965Gly