Canonical Allele Identifier: CA430244855

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549835-G-A
• MyVariant Identifiers: chr2:g.179414562G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549835G>A , CM000664.2:g.178549835G>A	GRCh38
NC_000002.11:g.179414562G>A , CM000664.1:g.179414562G>A	GRCh37
NC_000002.10:g.179122808G>A	NCBI36
NG_011618.3:g.285968C>T , LRG_391:g.285968C>T
NG_051363.1:g.32009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84183C>T (TTN)	ENSP00000343764.6:p.Phe28061=
ENST00000342175.11:c.65268C>T (TTN)	ENSP00000340554.6:p.Phe21756=
ENST00000359218.10:c.65067C>T (TTN)	ENSP00000352154.5:p.Phe21689=
ENST00000342175.10:c.65268C>T (TTN)	ENSP00000340554.6:p.Phe21756=
ENST00000342992.10:c.84183C>T (TTN)	ENSP00000343764.6:p.Phe28061=
ENST00000359218.9:c.65067C>T (TTN)	ENSP00000352154.5:p.Phe21689=
ENST00000460472.6:c.64692C>T (TTN)	ENSP00000434586.1:p.Phe21564=
ENST00000589042.5:c.91887C>T (TTN) MANE Select	ENSP00000467141.1:p.Phe30629=
ENST00000591111.5:c.86964C>T (TTN)	ENSP00000465570.1:p.Phe28988=
ENST00000615779.4:c.86964C>T (TTN)	ENSP00000483597.1:p.Phe28988=
NM_001256850.1:c.86964C>T (TTN)	NP_001243779.1:p.Phe28988=
NM_001267550.2:c.91887C>T (TTN) MANE Select	NP_001254479.2:p.Phe30629=
NM_003319.4:c.64692C>T (TTN)	NP_003310.4:p.Phe21564=
NM_133378.4:c.84183C>T (TTN)	NP_596869.4:p.Phe28061=
NM_133432.3:c.65067C>T (TTN)	NP_597676.3:p.Phe21689=
NM_133437.4:c.65268C>T (TTN)	NP_597681.4:p.Phe21756=
NR_038271.1:n.447-21465G>A (TTN-AS1)
NR_038272.1:n.2043+7474G>A (TTN-AS1)
XM_011511729.1:c.90984C>T (TTN)	XP_011510031.1:p.Phe30328=
XM_011511730.1:c.64878C>T (TTN)	XP_011510032.1:p.Phe21626=
XM_011511731.1:c.64737C>T (TTN)	XP_011510033.1:p.Phe21579=
XM_017004819.1:c.90780C>T (TTN)	XP_016860308.1:p.Phe30260=
XM_017004820.1:c.86178C>T (TTN)	XP_016860309.1:p.Phe28726=
XM_017004821.1:c.86175C>T (TTN)	XP_016860310.1:p.Phe28725=
XM_017004822.1:c.83217C>T (TTN)	XP_016860311.1:p.Phe27739=
XM_017004823.1:c.64833C>T (TTN)	XP_016860312.1:p.Phe21611=
XM_024453094.1:c.86328C>T (TTN)	XP_024308862.1:p.Phe28776=
XM_024453095.1:c.86325C>T (TTN)	XP_024308863.1:p.Phe28775=
XM_024453096.1:c.85758C>T (TTN)	XP_024308864.1:p.Phe28586=
XM_024453097.1:c.83100C>T (TTN)	XP_024308865.1:p.Phe27700=
XM_024453098.1:c.83019C>T (TTN)	XP_024308866.1:p.Phe27673=
XM_024453099.1:c.64782C>T (TTN)	XP_024308867.1:p.Phe21594=
XM_024453100.1:c.54636C>T (TTN)	XP_024308868.1:p.Phe18212=