Canonical Allele Identifier: CA430263248

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449211G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584484G>A , CM000664.2:g.178584484G>A	GRCh38
NC_000002.11:g.179449211G>A , CM000664.1:g.179449211G>A	GRCh37
NC_000002.10:g.179157457G>A	NCBI36
NG_011618.3:g.251319C>T , LRG_391:g.251319C>T
NG_051363.1:g.66658G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57363C>T (TTN)	ENSP00000343764.6:p.Ser19121=
ENST00000342175.11:c.38448C>T (TTN)	ENSP00000340554.6:p.Ser12816=
ENST00000359218.10:c.38247C>T (TTN)	ENSP00000352154.5:p.Ser12749=
ENST00000342175.10:c.38448C>T (TTN)	ENSP00000340554.6:p.Ser12816=
ENST00000342992.10:c.57363C>T (TTN)	ENSP00000343764.6:p.Ser19121=
ENST00000359218.9:c.38247C>T (TTN)	ENSP00000352154.5:p.Ser12749=
ENST00000460472.6:c.37872C>T (TTN)	ENSP00000434586.1:p.Ser12624=
ENST00000589042.5:c.65067C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser21689=
ENST00000591111.5:c.60144C>T (TTN)	ENSP00000465570.1:p.Ser20048=
ENST00000615779.4:c.60144C>T (TTN)	ENSP00000483597.1:p.Ser20048=
NM_001256850.1:c.60144C>T (TTN)	NP_001243779.1:p.Ser20048=
NM_001267550.2:c.65067C>T (TTN) MANE Select	NP_001254479.2:p.Ser21689=
NM_003319.4:c.37872C>T (TTN)	NP_003310.4:p.Ser12624=
NM_133378.4:c.57363C>T (TTN)	NP_596869.4:p.Ser19121=
NM_133432.3:c.38247C>T (TTN)	NP_597676.3:p.Ser12749=
NM_133437.4:c.38448C>T (TTN)	NP_597681.4:p.Ser12816=
NR_038271.1:n.596+13035G>A (TTN-AS1)
NR_038272.1:n.2768-89G>A (TTN-AS1)
XM_011511729.1:c.64164C>T (TTN)	XP_011510031.1:p.Ser21388=
XM_011511730.1:c.38058C>T (TTN)	XP_011510032.1:p.Ser12686=
XM_011511731.1:c.37917C>T (TTN)	XP_011510033.1:p.Ser12639=
XM_017004819.1:c.63960C>T (TTN)	XP_016860308.1:p.Ser21320=
XM_017004820.1:c.59358C>T (TTN)	XP_016860309.1:p.Ser19786=
XM_017004821.1:c.59355C>T (TTN)	XP_016860310.1:p.Ser19785=
XM_017004822.1:c.56397C>T (TTN)	XP_016860311.1:p.Ser18799=
XM_017004823.1:c.38013C>T (TTN)	XP_016860312.1:p.Ser12671=
XM_024453094.1:c.59508C>T (TTN)	XP_024308862.1:p.Ser19836=
XM_024453095.1:c.59505C>T (TTN)	XP_024308863.1:p.Ser19835=
XM_024453096.1:c.58938C>T (TTN)	XP_024308864.1:p.Ser19646=
XM_024453097.1:c.56280C>T (TTN)	XP_024308865.1:p.Ser18760=
XM_024453098.1:c.56199C>T (TTN)	XP_024308866.1:p.Ser18733=
XM_024453099.1:c.37962C>T (TTN)	XP_024308867.1:p.Ser12654=
XM_024453100.1:c.27816C>T (TTN)	XP_024308868.1:p.Ser9272=