Canonical Allele Identifier: CA430263244

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449208G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584481G>A , CM000664.2:g.178584481G>A	GRCh38
NC_000002.11:g.179449208G>A , CM000664.1:g.179449208G>A	GRCh37
NC_000002.10:g.179157454G>A	NCBI36
NG_011618.3:g.251322C>T , LRG_391:g.251322C>T
NG_051363.1:g.66655G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57366C>T (TTN)	ENSP00000343764.6:p.Pro19122=
ENST00000342175.11:c.38451C>T (TTN)	ENSP00000340554.6:p.Pro12817=
ENST00000359218.10:c.38250C>T (TTN)	ENSP00000352154.5:p.Pro12750=
ENST00000342175.10:c.38451C>T (TTN)	ENSP00000340554.6:p.Pro12817=
ENST00000342992.10:c.57366C>T (TTN)	ENSP00000343764.6:p.Pro19122=
ENST00000359218.9:c.38250C>T (TTN)	ENSP00000352154.5:p.Pro12750=
ENST00000460472.6:c.37875C>T (TTN)	ENSP00000434586.1:p.Pro12625=
ENST00000589042.5:c.65070C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro21690=
ENST00000591111.5:c.60147C>T (TTN)	ENSP00000465570.1:p.Pro20049=
ENST00000615779.4:c.60147C>T (TTN)	ENSP00000483597.1:p.Pro20049=
NM_001256850.1:c.60147C>T (TTN)	NP_001243779.1:p.Pro20049=
NM_001267550.2:c.65070C>T (TTN) MANE Select	NP_001254479.2:p.Pro21690=
NM_003319.4:c.37875C>T (TTN)	NP_003310.4:p.Pro12625=
NM_133378.4:c.57366C>T (TTN)	NP_596869.4:p.Pro19122=
NM_133432.3:c.38250C>T (TTN)	NP_597676.3:p.Pro12750=
NM_133437.4:c.38451C>T (TTN)	NP_597681.4:p.Pro12817=
NR_038271.1:n.596+13032G>A (TTN-AS1)
NR_038272.1:n.2768-92G>A (TTN-AS1)
XM_011511729.1:c.64167C>T (TTN)	XP_011510031.1:p.Pro21389=
XM_011511730.1:c.38061C>T (TTN)	XP_011510032.1:p.Pro12687=
XM_011511731.1:c.37920C>T (TTN)	XP_011510033.1:p.Pro12640=
XM_017004819.1:c.63963C>T (TTN)	XP_016860308.1:p.Pro21321=
XM_017004820.1:c.59361C>T (TTN)	XP_016860309.1:p.Pro19787=
XM_017004821.1:c.59358C>T (TTN)	XP_016860310.1:p.Pro19786=
XM_017004822.1:c.56400C>T (TTN)	XP_016860311.1:p.Pro18800=
XM_017004823.1:c.38016C>T (TTN)	XP_016860312.1:p.Pro12672=
XM_024453094.1:c.59511C>T (TTN)	XP_024308862.1:p.Pro19837=
XM_024453095.1:c.59508C>T (TTN)	XP_024308863.1:p.Pro19836=
XM_024453096.1:c.58941C>T (TTN)	XP_024308864.1:p.Pro19647=
XM_024453097.1:c.56283C>T (TTN)	XP_024308865.1:p.Pro18761=
XM_024453098.1:c.56202C>T (TTN)	XP_024308866.1:p.Pro18734=
XM_024453099.1:c.37965C>T (TTN)	XP_024308867.1:p.Pro12655=
XM_024453100.1:c.27819C>T (TTN)	XP_024308868.1:p.Pro9273=