Canonical Allele Identifier: CA349451210

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1312027934
• gnomAD v2: 2-179408653-T-C
• gnomAD v4: 2-178543926-T-C
• MyVariant Identifiers: chr2:g.179408653T>C (hg19) ; chr2:g.178543926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543926T>C , CM000664.2:g.178543926T>C	GRCh38
NC_000002.11:g.179408653T>C , CM000664.1:g.179408653T>C	GRCh37
NC_000002.10:g.179116899T>C	NCBI36
NG_011618.3:g.291877A>G , LRG_391:g.291877A>G
NG_051363.1:g.26100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88514A>G (TTN)	ENSP00000343764.6:p.Asp29505Gly
ENST00000342175.11:c.69599A>G (TTN)	ENSP00000340554.6:p.Asp23200Gly
ENST00000359218.10:c.69398A>G (TTN)	ENSP00000352154.5:p.Asp23133Gly
ENST00000342175.10:c.69599A>G (TTN)	ENSP00000340554.6:p.Asp23200Gly
ENST00000342992.10:c.88514A>G (TTN)	ENSP00000343764.6:p.Asp29505Gly
ENST00000359218.9:c.69398A>G (TTN)	ENSP00000352154.5:p.Asp23133Gly
ENST00000460472.6:c.69023A>G (TTN)	ENSP00000434586.1:p.Asp23008Gly
ENST00000589042.5:c.96218A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp32073Gly
ENST00000591111.5:c.91295A>G (TTN)	ENSP00000465570.1:p.Asp30432Gly
ENST00000615779.4:c.91295A>G (TTN)	ENSP00000483597.1:p.Asp30432Gly
NM_001256850.1:c.91295A>G (TTN)	NP_001243779.1:p.Asp30432Gly
NM_001267550.2:c.96218A>G (TTN) MANE Select	NP_001254479.2:p.Asp32073Gly
NM_003319.4:c.69023A>G (TTN)	NP_003310.4:p.Asp23008Gly
NM_133378.4:c.88514A>G (TTN)	NP_596869.4:p.Asp29505Gly
NM_133432.3:c.69398A>G (TTN)	NP_597676.3:p.Asp23133Gly
NM_133437.4:c.69599A>G (TTN)	NP_597681.4:p.Asp23200Gly
NR_038271.1:n.446+20290T>C (TTN-AS1)
NR_038272.1:n.2043+1565T>C (TTN-AS1)
XM_011511729.1:c.95315A>G (TTN)	XP_011510031.1:p.Asp31772Gly
XM_011511730.1:c.69209A>G (TTN)	XP_011510032.1:p.Asp23070Gly
XM_011511731.1:c.69068A>G (TTN)	XP_011510033.1:p.Asp23023Gly
XM_017004819.1:c.95111A>G (TTN)	XP_016860308.1:p.Asp31704Gly
XM_017004820.1:c.90509A>G (TTN)	XP_016860309.1:p.Asp30170Gly
XM_017004821.1:c.90506A>G (TTN)	XP_016860310.1:p.Asp30169Gly
XM_017004822.1:c.87548A>G (TTN)	XP_016860311.1:p.Asp29183Gly
XM_017004823.1:c.69164A>G (TTN)	XP_016860312.1:p.Asp23055Gly
XM_024453094.1:c.90659A>G (TTN)	XP_024308862.1:p.Asp30220Gly
XM_024453095.1:c.90656A>G (TTN)	XP_024308863.1:p.Asp30219Gly
XM_024453096.1:c.90089A>G (TTN)	XP_024308864.1:p.Asp30030Gly
XM_024453097.1:c.87431A>G (TTN)	XP_024308865.1:p.Asp29144Gly
XM_024453098.1:c.87350A>G (TTN)	XP_024308866.1:p.Asp29117Gly
XM_024453099.1:c.69113A>G (TTN)	XP_024308867.1:p.Asp23038Gly
XM_024453100.1:c.58967A>G (TTN)	XP_024308868.1:p.Asp19656Gly