Canonical Allele Identifier: CA60991100

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs878904723
• gnomAD v2: 2-179432024-C-A
• gnomAD v4: 2-178567297-C-A
• MyVariant Identifiers: chr2:g.179432024C>A (hg19) ; chr2:g.178567297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567297C>A , CM000664.2:g.178567297C>A	GRCh38
NC_000002.11:g.179432024C>A , CM000664.1:g.179432024C>A	GRCh37
NC_000002.10:g.179140270C>A	NCBI36
NG_011618.3:g.268506G>T , LRG_391:g.268506G>T
NG_051363.1:g.49471C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71131G>T (TTN)	ENSP00000343764.6:p.Val23711Leu
ENST00000342175.11:c.52216G>T (TTN)	ENSP00000340554.6:p.Val17406Leu
ENST00000359218.10:c.52015G>T (TTN)	ENSP00000352154.5:p.Val17339Leu
ENST00000342175.10:c.52216G>T (TTN)	ENSP00000340554.6:p.Val17406Leu
ENST00000342992.10:c.71131G>T (TTN)	ENSP00000343764.6:p.Val23711Leu
ENST00000359218.9:c.52015G>T (TTN)	ENSP00000352154.5:p.Val17339Leu
ENST00000460472.6:c.51640G>T (TTN)	ENSP00000434586.1:p.Val17214Leu
ENST00000589042.5:c.78835G>T (TTN) MANE Select	ENSP00000467141.1:p.Val26279Leu
ENST00000591111.5:c.73912G>T (TTN)	ENSP00000465570.1:p.Val24638Leu
ENST00000615779.4:c.73912G>T (TTN)	ENSP00000483597.1:p.Val24638Leu
NM_001256850.1:c.73912G>T (TTN)	NP_001243779.1:p.Val24638Leu
NM_001267550.2:c.78835G>T (TTN) MANE Select	NP_001254479.2:p.Val26279Leu
NM_003319.4:c.51640G>T (TTN)	NP_003310.4:p.Val17214Leu
NM_133378.4:c.71131G>T (TTN)	NP_596869.4:p.Val23711Leu
NM_133432.3:c.52015G>T (TTN)	NP_597676.3:p.Val17339Leu
NM_133437.4:c.52216G>T (TTN)	NP_597681.4:p.Val17406Leu
NR_038271.1:n.447-4003C>A (TTN-AS1)
NR_038272.1:n.2044-15275C>A (TTN-AS1)
XM_011511729.1:c.77932G>T (TTN)	XP_011510031.1:p.Val25978Leu
XM_011511730.1:c.51826G>T (TTN)	XP_011510032.1:p.Val17276Leu
XM_011511731.1:c.51685G>T (TTN)	XP_011510033.1:p.Val17229Leu
XM_017004819.1:c.77728G>T (TTN)	XP_016860308.1:p.Val25910Leu
XM_017004820.1:c.73126G>T (TTN)	XP_016860309.1:p.Val24376Leu
XM_017004821.1:c.73123G>T (TTN)	XP_016860310.1:p.Val24375Leu
XM_017004822.1:c.70165G>T (TTN)	XP_016860311.1:p.Val23389Leu
XM_017004823.1:c.51781G>T (TTN)	XP_016860312.1:p.Val17261Leu
XM_024453094.1:c.73276G>T (TTN)	XP_024308862.1:p.Val24426Leu
XM_024453095.1:c.73273G>T (TTN)	XP_024308863.1:p.Val24425Leu
XM_024453096.1:c.72706G>T (TTN)	XP_024308864.1:p.Val24236Leu
XM_024453097.1:c.70048G>T (TTN)	XP_024308865.1:p.Val23350Leu
XM_024453098.1:c.69967G>T (TTN)	XP_024308866.1:p.Val23323Leu
XM_024453099.1:c.51730G>T (TTN)	XP_024308867.1:p.Val17244Leu
XM_024453100.1:c.41584G>T (TTN)	XP_024308868.1:p.Val13862Leu