Canonical Allele Identifier: CA430267923

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458761A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594034A>G , CM000664.2:g.178594034A>G	GRCh38
NC_000002.11:g.179458761A>G , CM000664.1:g.179458761A>G	GRCh37
NC_000002.10:g.179167007A>G	NCBI36
NG_011618.3:g.241769T>C , LRG_391:g.241769T>C
NG_051363.1:g.76208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50655T>C (TTN)	ENSP00000343764.6:p.Asp16885=
ENST00000342175.11:c.31740T>C (TTN)	ENSP00000340554.6:p.Asp10580=
ENST00000359218.10:c.31539T>C (TTN)	ENSP00000352154.5:p.Asp10513=
ENST00000342175.10:c.31740T>C (TTN)	ENSP00000340554.6:p.Asp10580=
ENST00000342992.10:c.50655T>C (TTN)	ENSP00000343764.6:p.Asp16885=
ENST00000359218.9:c.31539T>C (TTN)	ENSP00000352154.5:p.Asp10513=
ENST00000460472.6:c.31164T>C (TTN)	ENSP00000434586.1:p.Asp10388=
ENST00000589042.5:c.58359T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp19453=
ENST00000591111.5:c.53436T>C (TTN)	ENSP00000465570.1:p.Asp17812=
ENST00000615779.4:c.53436T>C (TTN)	ENSP00000483597.1:p.Asp17812=
NM_001256850.1:c.53436T>C (TTN)	NP_001243779.1:p.Asp17812=
NM_001267550.2:c.58359T>C (TTN) MANE Select	NP_001254479.2:p.Asp19453=
NM_003319.4:c.31164T>C (TTN)	NP_003310.4:p.Asp10388=
NM_133378.4:c.50655T>C (TTN)	NP_596869.4:p.Asp16885=
NM_133432.3:c.31539T>C (TTN)	NP_597676.3:p.Asp10513=
NM_133437.4:c.31740T>C (TTN)	NP_597681.4:p.Asp10580=
NR_038271.1:n.597-3562A>G (TTN-AS1)
NR_038272.1:n.3364+2720A>G (TTN-AS1)
XM_011511729.1:c.57456T>C (TTN)	XP_011510031.1:p.Asp19152=
XM_011511730.1:c.31350T>C (TTN)	XP_011510032.1:p.Asp10450=
XM_011511731.1:c.31209T>C (TTN)	XP_011510033.1:p.Asp10403=
XM_017004819.1:c.57252T>C (TTN)	XP_016860308.1:p.Asp19084=
XM_017004820.1:c.52650T>C (TTN)	XP_016860309.1:p.Asp17550=
XM_017004821.1:c.52647T>C (TTN)	XP_016860310.1:p.Asp17549=
XM_017004822.1:c.49689T>C (TTN)	XP_016860311.1:p.Asp16563=
XM_017004823.1:c.31305T>C (TTN)	XP_016860312.1:p.Asp10435=
XM_024453094.1:c.52800T>C (TTN)	XP_024308862.1:p.Asp17600=
XM_024453095.1:c.52797T>C (TTN)	XP_024308863.1:p.Asp17599=
XM_024453096.1:c.52230T>C (TTN)	XP_024308864.1:p.Asp17410=
XM_024453097.1:c.49572T>C (TTN)	XP_024308865.1:p.Asp16524=
XM_024453098.1:c.49491T>C (TTN)	XP_024308866.1:p.Asp16497=
XM_024453099.1:c.31254T>C (TTN)	XP_024308867.1:p.Asp10418=
XM_024453100.1:c.21108T>C (TTN)	XP_024308868.1:p.Asp7036=