Canonical Allele Identifier: CA349636468

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178572259-A-C
• MyVariant Identifiers: chr2:g.179436986A>C (hg19) ; chr2:g.178572259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572259A>C , CM000664.2:g.178572259A>C	GRCh38
NC_000002.11:g.179436986A>C , CM000664.1:g.179436986A>C	GRCh37
NC_000002.10:g.179145232A>C	NCBI36
NG_011618.3:g.263544T>G , LRG_391:g.263544T>G
NG_051363.1:g.54433A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.66169T>G (TTN)	ENSP00000343764.6:p.Leu22057Val
ENST00000342175.11:c.47254T>G (TTN)	ENSP00000340554.6:p.Leu15752Val
ENST00000359218.10:c.47053T>G (TTN)	ENSP00000352154.5:p.Leu15685Val
ENST00000342175.10:c.47254T>G (TTN)	ENSP00000340554.6:p.Leu15752Val
ENST00000342992.10:c.66169T>G (TTN)	ENSP00000343764.6:p.Leu22057Val
ENST00000359218.9:c.47053T>G (TTN)	ENSP00000352154.5:p.Leu15685Val
ENST00000460472.6:c.46678T>G (TTN)	ENSP00000434586.1:p.Leu15560Val
ENST00000589042.5:c.73873T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu24625Val
ENST00000591111.5:c.68950T>G (TTN)	ENSP00000465570.1:p.Leu22984Val
ENST00000615779.4:c.68950T>G (TTN)	ENSP00000483597.1:p.Leu22984Val
NM_001256850.1:c.68950T>G (TTN)	NP_001243779.1:p.Leu22984Val
NM_001267550.2:c.73873T>G (TTN) MANE Select	NP_001254479.2:p.Leu24625Val
NM_003319.4:c.46678T>G (TTN)	NP_003310.4:p.Leu15560Val
NM_133378.4:c.66169T>G (TTN)	NP_596869.4:p.Leu22057Val
NM_133432.3:c.47053T>G (TTN)	NP_597676.3:p.Leu15685Val
NM_133437.4:c.47254T>G (TTN)	NP_597681.4:p.Leu15752Val
NR_038271.1:n.596+810A>C (TTN-AS1)
NR_038272.1:n.2044-10313A>C (TTN-AS1)
XM_011511729.1:c.72970T>G (TTN)	XP_011510031.1:p.Leu24324Val
XM_011511730.1:c.46864T>G (TTN)	XP_011510032.1:p.Leu15622Val
XM_011511731.1:c.46723T>G (TTN)	XP_011510033.1:p.Leu15575Val
XM_017004819.1:c.72766T>G (TTN)	XP_016860308.1:p.Leu24256Val
XM_017004820.1:c.68164T>G (TTN)	XP_016860309.1:p.Leu22722Val
XM_017004821.1:c.68161T>G (TTN)	XP_016860310.1:p.Leu22721Val
XM_017004822.1:c.65203T>G (TTN)	XP_016860311.1:p.Leu21735Val
XM_017004823.1:c.46819T>G (TTN)	XP_016860312.1:p.Leu15607Val
XM_024453094.1:c.68314T>G (TTN)	XP_024308862.1:p.Leu22772Val
XM_024453095.1:c.68311T>G (TTN)	XP_024308863.1:p.Leu22771Val
XM_024453096.1:c.67744T>G (TTN)	XP_024308864.1:p.Leu22582Val
XM_024453097.1:c.65086T>G (TTN)	XP_024308865.1:p.Leu21696Val
XM_024453098.1:c.65005T>G (TTN)	XP_024308866.1:p.Leu21669Val
XM_024453099.1:c.46768T>G (TTN)	XP_024308867.1:p.Leu15590Val
XM_024453100.1:c.36622T>G (TTN)	XP_024308868.1:p.Leu12208Val