Canonical Allele Identifier: CA430245526

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551937-C-T
• MyVariant Identifiers: chr2:g.179416664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551937C>T , CM000664.2:g.178551937C>T	GRCh38
NC_000002.11:g.179416664C>T , CM000664.1:g.179416664C>T	GRCh37
NC_000002.10:g.179124910C>T	NCBI36
NG_011618.3:g.283866G>A , LRG_391:g.283866G>A
NG_051363.1:g.34111C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83259G>A (TTN)	ENSP00000343764.6:p.Gln27753=
ENST00000342175.11:c.64344G>A (TTN)	ENSP00000340554.6:p.Gln21448=
ENST00000359218.10:c.64143G>A (TTN)	ENSP00000352154.5:p.Gln21381=
ENST00000342175.10:c.64344G>A (TTN)	ENSP00000340554.6:p.Gln21448=
ENST00000342992.10:c.83259G>A (TTN)	ENSP00000343764.6:p.Gln27753=
ENST00000359218.9:c.64143G>A (TTN)	ENSP00000352154.5:p.Gln21381=
ENST00000460472.6:c.63768G>A (TTN)	ENSP00000434586.1:p.Gln21256=
ENST00000589042.5:c.90963G>A (TTN) MANE Select	ENSP00000467141.1:p.Gln30321=
ENST00000591111.5:c.86040G>A (TTN)	ENSP00000465570.1:p.Gln28680=
ENST00000615779.4:c.86040G>A (TTN)	ENSP00000483597.1:p.Gln28680=
NM_001256850.1:c.86040G>A (TTN)	NP_001243779.1:p.Gln28680=
NM_001267550.2:c.90963G>A (TTN) MANE Select	NP_001254479.2:p.Gln30321=
NM_003319.4:c.63768G>A (TTN)	NP_003310.4:p.Gln21256=
NM_133378.4:c.83259G>A (TTN)	NP_596869.4:p.Gln27753=
NM_133432.3:c.64143G>A (TTN)	NP_597676.3:p.Gln21381=
NM_133437.4:c.64344G>A (TTN)	NP_597681.4:p.Gln21448=
NR_038271.1:n.447-19363C>T (TTN-AS1)
NR_038272.1:n.2043+9576C>T (TTN-AS1)
XM_011511729.1:c.90060G>A (TTN)	XP_011510031.1:p.Gln30020=
XM_011511730.1:c.63954G>A (TTN)	XP_011510032.1:p.Gln21318=
XM_011511731.1:c.63813G>A (TTN)	XP_011510033.1:p.Gln21271=
XM_017004819.1:c.89856G>A (TTN)	XP_016860308.1:p.Gln29952=
XM_017004820.1:c.85254G>A (TTN)	XP_016860309.1:p.Gln28418=
XM_017004821.1:c.85251G>A (TTN)	XP_016860310.1:p.Gln28417=
XM_017004822.1:c.82293G>A (TTN)	XP_016860311.1:p.Gln27431=
XM_017004823.1:c.63909G>A (TTN)	XP_016860312.1:p.Gln21303=
XM_024453094.1:c.85404G>A (TTN)	XP_024308862.1:p.Gln28468=
XM_024453095.1:c.85401G>A (TTN)	XP_024308863.1:p.Gln28467=
XM_024453096.1:c.84834G>A (TTN)	XP_024308864.1:p.Gln28278=
XM_024453097.1:c.82176G>A (TTN)	XP_024308865.1:p.Gln27392=
XM_024453098.1:c.82095G>A (TTN)	XP_024308866.1:p.Gln27365=
XM_024453099.1:c.63858G>A (TTN)	XP_024308867.1:p.Gln21286=
XM_024453100.1:c.53712G>A (TTN)	XP_024308868.1:p.Gln17904=