Canonical Allele Identifier: CA349465205

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2049747701
• gnomAD v3: 2-178589413-A-C
• gnomAD v4: 2-178589413-A-C
• MyVariant Identifiers: chr2:g.179454140A>C (hg19) ; chr2:g.178589413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589413A>C , CM000664.2:g.178589413A>C	GRCh38
NC_000002.11:g.179454140A>C , CM000664.1:g.179454140A>C	GRCh37
NC_000002.10:g.179162386A>C	NCBI36
NG_011618.3:g.246390T>G , LRG_391:g.246390T>G
NG_051363.1:g.71587A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54608T>G (TTN)	ENSP00000343764.6:p.Leu18203Arg
ENST00000342175.11:c.35693T>G (TTN)	ENSP00000340554.6:p.Leu11898Arg
ENST00000359218.10:c.35492T>G (TTN)	ENSP00000352154.5:p.Leu11831Arg
ENST00000342175.10:c.35693T>G (TTN)	ENSP00000340554.6:p.Leu11898Arg
ENST00000342992.10:c.54608T>G (TTN)	ENSP00000343764.6:p.Leu18203Arg
ENST00000359218.9:c.35492T>G (TTN)	ENSP00000352154.5:p.Leu11831Arg
ENST00000460472.6:c.35117T>G (TTN)	ENSP00000434586.1:p.Leu11706Arg
ENST00000589042.5:c.62312T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu20771Arg
ENST00000591111.5:c.57389T>G (TTN)	ENSP00000465570.1:p.Leu19130Arg
ENST00000615779.4:c.57389T>G (TTN)	ENSP00000483597.1:p.Leu19130Arg
NM_001256850.1:c.57389T>G (TTN)	NP_001243779.1:p.Leu19130Arg
NM_001267550.2:c.62312T>G (TTN) MANE Select	NP_001254479.2:p.Leu20771Arg
NM_003319.4:c.35117T>G (TTN)	NP_003310.4:p.Leu11706Arg
NM_133378.4:c.54608T>G (TTN)	NP_596869.4:p.Leu18203Arg
NM_133432.3:c.35492T>G (TTN)	NP_597676.3:p.Leu11831Arg
NM_133437.4:c.35693T>G (TTN)	NP_597681.4:p.Leu11898Arg
NR_038271.1:n.597-8183A>C (TTN-AS1)
NR_038272.1:n.3189-1726A>C (TTN-AS1)
XM_011511729.1:c.61409T>G (TTN)	XP_011510031.1:p.Leu20470Arg
XM_011511730.1:c.35303T>G (TTN)	XP_011510032.1:p.Leu11768Arg
XM_011511731.1:c.35162T>G (TTN)	XP_011510033.1:p.Leu11721Arg
XM_017004819.1:c.61205T>G (TTN)	XP_016860308.1:p.Leu20402Arg
XM_017004820.1:c.56603T>G (TTN)	XP_016860309.1:p.Leu18868Arg
XM_017004821.1:c.56600T>G (TTN)	XP_016860310.1:p.Leu18867Arg
XM_017004822.1:c.53642T>G (TTN)	XP_016860311.1:p.Leu17881Arg
XM_017004823.1:c.35258T>G (TTN)	XP_016860312.1:p.Leu11753Arg
XM_024453094.1:c.56753T>G (TTN)	XP_024308862.1:p.Leu18918Arg
XM_024453095.1:c.56750T>G (TTN)	XP_024308863.1:p.Leu18917Arg
XM_024453096.1:c.56183T>G (TTN)	XP_024308864.1:p.Leu18728Arg
XM_024453097.1:c.53525T>G (TTN)	XP_024308865.1:p.Leu17842Arg
XM_024453098.1:c.53444T>G (TTN)	XP_024308866.1:p.Leu17815Arg
XM_024453099.1:c.35207T>G (TTN)	XP_024308867.1:p.Leu11736Arg
XM_024453100.1:c.25061T>G (TTN)	XP_024308868.1:p.Leu8354Arg