Canonical Allele Identifier: CA430254167

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569317-A-G
• MyVariant Identifiers: chr2:g.179434044A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569317A>G , CM000664.2:g.178569317A>G	GRCh38
NC_000002.11:g.179434044A>G , CM000664.1:g.179434044A>G	GRCh37
NC_000002.10:g.179142290A>G	NCBI36
NG_011618.3:g.266486T>C , LRG_391:g.266486T>C
NG_051363.1:g.51491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69111T>C (TTN)	ENSP00000343764.6:p.Pro23037=
ENST00000342175.11:c.50196T>C (TTN)	ENSP00000340554.6:p.Pro16732=
ENST00000359218.10:c.49995T>C (TTN)	ENSP00000352154.5:p.Pro16665=
ENST00000342175.10:c.50196T>C (TTN)	ENSP00000340554.6:p.Pro16732=
ENST00000342992.10:c.69111T>C (TTN)	ENSP00000343764.6:p.Pro23037=
ENST00000359218.9:c.49995T>C (TTN)	ENSP00000352154.5:p.Pro16665=
ENST00000460472.6:c.49620T>C (TTN)	ENSP00000434586.1:p.Pro16540=
ENST00000589042.5:c.76815T>C (TTN) MANE Select	ENSP00000467141.1:p.Pro25605=
ENST00000591111.5:c.71892T>C (TTN)	ENSP00000465570.1:p.Pro23964=
ENST00000615779.4:c.71892T>C (TTN)	ENSP00000483597.1:p.Pro23964=
NM_001256850.1:c.71892T>C (TTN)	NP_001243779.1:p.Pro23964=
NM_001267550.2:c.76815T>C (TTN) MANE Select	NP_001254479.2:p.Pro25605=
NM_003319.4:c.49620T>C (TTN)	NP_003310.4:p.Pro16540=
NM_133378.4:c.69111T>C (TTN)	NP_596869.4:p.Pro23037=
NM_133432.3:c.49995T>C (TTN)	NP_597676.3:p.Pro16665=
NM_133437.4:c.50196T>C (TTN)	NP_597681.4:p.Pro16732=
NR_038271.1:n.447-1983A>G (TTN-AS1)
NR_038272.1:n.2044-13255A>G (TTN-AS1)
XM_011511729.1:c.75912T>C (TTN)	XP_011510031.1:p.Pro25304=
XM_011511730.1:c.49806T>C (TTN)	XP_011510032.1:p.Pro16602=
XM_011511731.1:c.49665T>C (TTN)	XP_011510033.1:p.Pro16555=
XM_017004819.1:c.75708T>C (TTN)	XP_016860308.1:p.Pro25236=
XM_017004820.1:c.71106T>C (TTN)	XP_016860309.1:p.Pro23702=
XM_017004821.1:c.71103T>C (TTN)	XP_016860310.1:p.Pro23701=
XM_017004822.1:c.68145T>C (TTN)	XP_016860311.1:p.Pro22715=
XM_017004823.1:c.49761T>C (TTN)	XP_016860312.1:p.Pro16587=
XM_024453094.1:c.71256T>C (TTN)	XP_024308862.1:p.Pro23752=
XM_024453095.1:c.71253T>C (TTN)	XP_024308863.1:p.Pro23751=
XM_024453096.1:c.70686T>C (TTN)	XP_024308864.1:p.Pro23562=
XM_024453097.1:c.68028T>C (TTN)	XP_024308865.1:p.Pro22676=
XM_024453098.1:c.67947T>C (TTN)	XP_024308866.1:p.Pro22649=
XM_024453099.1:c.49710T>C (TTN)	XP_024308867.1:p.Pro16570=
XM_024453100.1:c.39564T>C (TTN)	XP_024308868.1:p.Pro13188=