Canonical Allele Identifier: CA430242467

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546775-T-G
• MyVariant Identifiers: chr2:g.179411502T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546775T>G , CM000664.2:g.178546775T>G	GRCh38
NC_000002.11:g.179411502T>G , CM000664.1:g.179411502T>G	GRCh37
NC_000002.10:g.179119748T>G	NCBI36
NG_011618.3:g.289028A>C , LRG_391:g.289028A>C
NG_051363.1:g.28949T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86949A>C (TTN)	ENSP00000343764.6:p.Val28983=
ENST00000342175.11:c.68034A>C (TTN)	ENSP00000340554.6:p.Val22678=
ENST00000359218.10:c.67833A>C (TTN)	ENSP00000352154.5:p.Val22611=
ENST00000342175.10:c.68034A>C (TTN)	ENSP00000340554.6:p.Val22678=
ENST00000342992.10:c.86949A>C (TTN)	ENSP00000343764.6:p.Val28983=
ENST00000359218.9:c.67833A>C (TTN)	ENSP00000352154.5:p.Val22611=
ENST00000460472.6:c.67458A>C (TTN)	ENSP00000434586.1:p.Val22486=
ENST00000589042.5:c.94653A>C (TTN) MANE Select	ENSP00000467141.1:p.Val31551=
ENST00000591111.5:c.89730A>C (TTN)	ENSP00000465570.1:p.Val29910=
ENST00000615779.4:c.89730A>C (TTN)	ENSP00000483597.1:p.Val29910=
NM_001256850.1:c.89730A>C (TTN)	NP_001243779.1:p.Val29910=
NM_001267550.2:c.94653A>C (TTN) MANE Select	NP_001254479.2:p.Val31551=
NM_003319.4:c.67458A>C (TTN)	NP_003310.4:p.Val22486=
NM_133378.4:c.86949A>C (TTN)	NP_596869.4:p.Val28983=
NM_133432.3:c.67833A>C (TTN)	NP_597676.3:p.Val22611=
NM_133437.4:c.68034A>C (TTN)	NP_597681.4:p.Val22678=
NR_038271.1:n.446+23139T>G (TTN-AS1)
NR_038272.1:n.2043+4414T>G (TTN-AS1)
XM_011511729.1:c.93750A>C (TTN)	XP_011510031.1:p.Val31250=
XM_011511730.1:c.67644A>C (TTN)	XP_011510032.1:p.Val22548=
XM_011511731.1:c.67503A>C (TTN)	XP_011510033.1:p.Val22501=
XM_017004819.1:c.93546A>C (TTN)	XP_016860308.1:p.Val31182=
XM_017004820.1:c.88944A>C (TTN)	XP_016860309.1:p.Val29648=
XM_017004821.1:c.88941A>C (TTN)	XP_016860310.1:p.Val29647=
XM_017004822.1:c.85983A>C (TTN)	XP_016860311.1:p.Val28661=
XM_017004823.1:c.67599A>C (TTN)	XP_016860312.1:p.Val22533=
XM_024453094.1:c.89094A>C (TTN)	XP_024308862.1:p.Val29698=
XM_024453095.1:c.89091A>C (TTN)	XP_024308863.1:p.Val29697=
XM_024453096.1:c.88524A>C (TTN)	XP_024308864.1:p.Val29508=
XM_024453097.1:c.85866A>C (TTN)	XP_024308865.1:p.Val28622=
XM_024453098.1:c.85785A>C (TTN)	XP_024308866.1:p.Val28595=
XM_024453099.1:c.67548A>C (TTN)	XP_024308867.1:p.Val22516=
XM_024453100.1:c.57402A>C (TTN)	XP_024308868.1:p.Val19134=