Canonical Allele Identifier: CA349435467

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048495568
• gnomAD v4: 2-178584482-G-A
• MyVariant Identifiers: chr2:g.179449209G>A (hg19) ; chr2:g.178584482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584482G>A , CM000664.2:g.178584482G>A	GRCh38
NC_000002.11:g.179449209G>A , CM000664.1:g.179449209G>A	GRCh37
NC_000002.10:g.179157455G>A	NCBI36
NG_011618.3:g.251321C>T , LRG_391:g.251321C>T
NG_051363.1:g.66656G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57365C>T (TTN)	ENSP00000343764.6:p.Pro19122Leu
ENST00000342175.11:c.38450C>T (TTN)	ENSP00000340554.6:p.Pro12817Leu
ENST00000359218.10:c.38249C>T (TTN)	ENSP00000352154.5:p.Pro12750Leu
ENST00000342175.10:c.38450C>T (TTN)	ENSP00000340554.6:p.Pro12817Leu
ENST00000342992.10:c.57365C>T (TTN)	ENSP00000343764.6:p.Pro19122Leu
ENST00000359218.9:c.38249C>T (TTN)	ENSP00000352154.5:p.Pro12750Leu
ENST00000460472.6:c.37874C>T (TTN)	ENSP00000434586.1:p.Pro12625Leu
ENST00000589042.5:c.65069C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro21690Leu
ENST00000591111.5:c.60146C>T (TTN)	ENSP00000465570.1:p.Pro20049Leu
ENST00000615779.4:c.60146C>T (TTN)	ENSP00000483597.1:p.Pro20049Leu
NM_001256850.1:c.60146C>T (TTN)	NP_001243779.1:p.Pro20049Leu
NM_001267550.2:c.65069C>T (TTN) MANE Select	NP_001254479.2:p.Pro21690Leu
NM_003319.4:c.37874C>T (TTN)	NP_003310.4:p.Pro12625Leu
NM_133378.4:c.57365C>T (TTN)	NP_596869.4:p.Pro19122Leu
NM_133432.3:c.38249C>T (TTN)	NP_597676.3:p.Pro12750Leu
NM_133437.4:c.38450C>T (TTN)	NP_597681.4:p.Pro12817Leu
NR_038271.1:n.596+13033G>A (TTN-AS1)
NR_038272.1:n.2768-91G>A (TTN-AS1)
XM_011511729.1:c.64166C>T (TTN)	XP_011510031.1:p.Pro21389Leu
XM_011511730.1:c.38060C>T (TTN)	XP_011510032.1:p.Pro12687Leu
XM_011511731.1:c.37919C>T (TTN)	XP_011510033.1:p.Pro12640Leu
XM_017004819.1:c.63962C>T (TTN)	XP_016860308.1:p.Pro21321Leu
XM_017004820.1:c.59360C>T (TTN)	XP_016860309.1:p.Pro19787Leu
XM_017004821.1:c.59357C>T (TTN)	XP_016860310.1:p.Pro19786Leu
XM_017004822.1:c.56399C>T (TTN)	XP_016860311.1:p.Pro18800Leu
XM_017004823.1:c.38015C>T (TTN)	XP_016860312.1:p.Pro12672Leu
XM_024453094.1:c.59510C>T (TTN)	XP_024308862.1:p.Pro19837Leu
XM_024453095.1:c.59507C>T (TTN)	XP_024308863.1:p.Pro19836Leu
XM_024453096.1:c.58940C>T (TTN)	XP_024308864.1:p.Pro19647Leu
XM_024453097.1:c.56282C>T (TTN)	XP_024308865.1:p.Pro18761Leu
XM_024453098.1:c.56201C>T (TTN)	XP_024308866.1:p.Pro18734Leu
XM_024453099.1:c.37964C>T (TTN)	XP_024308867.1:p.Pro12655Leu
XM_024453100.1:c.27818C>T (TTN)	XP_024308868.1:p.Pro9273Leu