Canonical Allele Identifier: CA349456007

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1441974085
• gnomAD v2: 2-179409035-T-C
• gnomAD v4: 2-178544308-T-C
• MyVariant Identifiers: chr2:g.179409035T>C (hg19) ; chr2:g.178544308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544308T>C , CM000664.2:g.178544308T>C	GRCh38
NC_000002.11:g.179409035T>C , CM000664.1:g.179409035T>C	GRCh37
NC_000002.10:g.179117281T>C	NCBI36
NG_011618.3:g.291495A>G , LRG_391:g.291495A>G
NG_051363.1:g.26482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88217A>G (TTN)	ENSP00000343764.6:p.Asp29406Gly
ENST00000342175.11:c.69302A>G (TTN)	ENSP00000340554.6:p.Asp23101Gly
ENST00000359218.10:c.69101A>G (TTN)	ENSP00000352154.5:p.Asp23034Gly
ENST00000342175.10:c.69302A>G (TTN)	ENSP00000340554.6:p.Asp23101Gly
ENST00000342992.10:c.88217A>G (TTN)	ENSP00000343764.6:p.Asp29406Gly
ENST00000359218.9:c.69101A>G (TTN)	ENSP00000352154.5:p.Asp23034Gly
ENST00000460472.6:c.68726A>G (TTN)	ENSP00000434586.1:p.Asp22909Gly
ENST00000589042.5:c.95921A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp31974Gly
ENST00000591111.5:c.90998A>G (TTN)	ENSP00000465570.1:p.Asp30333Gly
ENST00000615779.4:c.90998A>G (TTN)	ENSP00000483597.1:p.Asp30333Gly
NM_001256850.1:c.90998A>G (TTN)	NP_001243779.1:p.Asp30333Gly
NM_001267550.2:c.95921A>G (TTN) MANE Select	NP_001254479.2:p.Asp31974Gly
NM_003319.4:c.68726A>G (TTN)	NP_003310.4:p.Asp22909Gly
NM_133378.4:c.88217A>G (TTN)	NP_596869.4:p.Asp29406Gly
NM_133432.3:c.69101A>G (TTN)	NP_597676.3:p.Asp23034Gly
NM_133437.4:c.69302A>G (TTN)	NP_597681.4:p.Asp23101Gly
NR_038271.1:n.446+20672T>C (TTN-AS1)
NR_038272.1:n.2043+1947T>C (TTN-AS1)
XM_011511729.1:c.95018A>G (TTN)	XP_011510031.1:p.Asp31673Gly
XM_011511730.1:c.68912A>G (TTN)	XP_011510032.1:p.Asp22971Gly
XM_011511731.1:c.68771A>G (TTN)	XP_011510033.1:p.Asp22924Gly
XM_017004819.1:c.94814A>G (TTN)	XP_016860308.1:p.Asp31605Gly
XM_017004820.1:c.90212A>G (TTN)	XP_016860309.1:p.Asp30071Gly
XM_017004821.1:c.90209A>G (TTN)	XP_016860310.1:p.Asp30070Gly
XM_017004822.1:c.87251A>G (TTN)	XP_016860311.1:p.Asp29084Gly
XM_017004823.1:c.68867A>G (TTN)	XP_016860312.1:p.Asp22956Gly
XM_024453094.1:c.90362A>G (TTN)	XP_024308862.1:p.Asp30121Gly
XM_024453095.1:c.90359A>G (TTN)	XP_024308863.1:p.Asp30120Gly
XM_024453096.1:c.89792A>G (TTN)	XP_024308864.1:p.Asp29931Gly
XM_024453097.1:c.87134A>G (TTN)	XP_024308865.1:p.Asp29045Gly
XM_024453098.1:c.87053A>G (TTN)	XP_024308866.1:p.Asp29018Gly
XM_024453099.1:c.68816A>G (TTN)	XP_024308867.1:p.Asp22939Gly
XM_024453100.1:c.58670A>G (TTN)	XP_024308868.1:p.Asp19557Gly