Canonical Allele Identifier: CA349488708

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1326381229
• gnomAD v2: 2-179456710-G-A
• gnomAD v4: 2-178591983-G-A
• MyVariant Identifiers: chr2:g.179456710G>A (hg19) ; chr2:g.178591983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591983G>A , CM000664.2:g.178591983G>A	GRCh38
NC_000002.11:g.179456710G>A , CM000664.1:g.179456710G>A	GRCh37
NC_000002.10:g.179164956G>A	NCBI36
NG_011618.3:g.243820C>T , LRG_391:g.243820C>T
NG_051363.1:g.74157G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52217C>T (TTN)	ENSP00000343764.6:p.Pro17406Leu
ENST00000342175.11:c.33302C>T (TTN)	ENSP00000340554.6:p.Pro11101Leu
ENST00000359218.10:c.33101C>T (TTN)	ENSP00000352154.5:p.Pro11034Leu
ENST00000342175.10:c.33302C>T (TTN)	ENSP00000340554.6:p.Pro11101Leu
ENST00000342992.10:c.52217C>T (TTN)	ENSP00000343764.6:p.Pro17406Leu
ENST00000359218.9:c.33101C>T (TTN)	ENSP00000352154.5:p.Pro11034Leu
ENST00000460472.6:c.32726C>T (TTN)	ENSP00000434586.1:p.Pro10909Leu
ENST00000589042.5:c.59921C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19974Leu
ENST00000591111.5:c.54998C>T (TTN)	ENSP00000465570.1:p.Pro18333Leu
ENST00000615779.4:c.54998C>T (TTN)	ENSP00000483597.1:p.Pro18333Leu
NM_001256850.1:c.54998C>T (TTN)	NP_001243779.1:p.Pro18333Leu
NM_001267550.2:c.59921C>T (TTN) MANE Select	NP_001254479.2:p.Pro19974Leu
NM_003319.4:c.32726C>T (TTN)	NP_003310.4:p.Pro10909Leu
NM_133378.4:c.52217C>T (TTN)	NP_596869.4:p.Pro17406Leu
NM_133432.3:c.33101C>T (TTN)	NP_597676.3:p.Pro11034Leu
NM_133437.4:c.33302C>T (TTN)	NP_597681.4:p.Pro11101Leu
NR_038271.1:n.597-5613G>A (TTN-AS1)
NR_038272.1:n.3364+669G>A (TTN-AS1)
XM_011511729.1:c.59018C>T (TTN)	XP_011510031.1:p.Pro19673Leu
XM_011511730.1:c.32912C>T (TTN)	XP_011510032.1:p.Pro10971Leu
XM_011511731.1:c.32771C>T (TTN)	XP_011510033.1:p.Pro10924Leu
XM_017004819.1:c.58814C>T (TTN)	XP_016860308.1:p.Pro19605Leu
XM_017004820.1:c.54212C>T (TTN)	XP_016860309.1:p.Pro18071Leu
XM_017004821.1:c.54209C>T (TTN)	XP_016860310.1:p.Pro18070Leu
XM_017004822.1:c.51251C>T (TTN)	XP_016860311.1:p.Pro17084Leu
XM_017004823.1:c.32867C>T (TTN)	XP_016860312.1:p.Pro10956Leu
XM_024453094.1:c.54362C>T (TTN)	XP_024308862.1:p.Pro18121Leu
XM_024453095.1:c.54359C>T (TTN)	XP_024308863.1:p.Pro18120Leu
XM_024453096.1:c.53792C>T (TTN)	XP_024308864.1:p.Pro17931Leu
XM_024453097.1:c.51134C>T (TTN)	XP_024308865.1:p.Pro17045Leu
XM_024453098.1:c.51053C>T (TTN)	XP_024308866.1:p.Pro17018Leu
XM_024453099.1:c.32816C>T (TTN)	XP_024308867.1:p.Pro10939Leu
XM_024453100.1:c.22670C>T (TTN)	XP_024308868.1:p.Pro7557Leu