Canonical Allele Identifier: CA349612834

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs770512378
• gnomAD v2: 2-179433824-T-C
• gnomAD v4: 2-178569097-T-C
• COSMIC: COSM5511800 ; COSM5511801 ; COSM5511802 ; COSM5511803
• MyVariant Identifiers: chr2:g.179433824T>C (hg19) ; chr2:g.178569097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569097T>C , CM000664.2:g.178569097T>C	GRCh38
NC_000002.11:g.179433824T>C , CM000664.1:g.179433824T>C	GRCh37
NC_000002.10:g.179142070T>C	NCBI36
NG_011618.3:g.266706A>G , LRG_391:g.266706A>G
NG_051363.1:g.51271T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69331A>G (TTN)	ENSP00000343764.6:p.Asn23111Asp
ENST00000342175.11:c.50416A>G (TTN)	ENSP00000340554.6:p.Asn16806Asp
ENST00000359218.10:c.50215A>G (TTN)	ENSP00000352154.5:p.Asn16739Asp
ENST00000342175.10:c.50416A>G (TTN)	ENSP00000340554.6:p.Asn16806Asp
ENST00000342992.10:c.69331A>G (TTN)	ENSP00000343764.6:p.Asn23111Asp
ENST00000359218.9:c.50215A>G (TTN)	ENSP00000352154.5:p.Asn16739Asp
ENST00000460472.6:c.49840A>G (TTN)	ENSP00000434586.1:p.Asn16614Asp
ENST00000589042.5:c.77035A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn25679Asp
ENST00000591111.5:c.72112A>G (TTN)	ENSP00000465570.1:p.Asn24038Asp
ENST00000615779.4:c.72112A>G (TTN)	ENSP00000483597.1:p.Asn24038Asp
NM_001256850.1:c.72112A>G (TTN)	NP_001243779.1:p.Asn24038Asp
NM_001267550.2:c.77035A>G (TTN) MANE Select	NP_001254479.2:p.Asn25679Asp
NM_003319.4:c.49840A>G (TTN)	NP_003310.4:p.Asn16614Asp
NM_133378.4:c.69331A>G (TTN)	NP_596869.4:p.Asn23111Asp
NM_133432.3:c.50215A>G (TTN)	NP_597676.3:p.Asn16739Asp
NM_133437.4:c.50416A>G (TTN)	NP_597681.4:p.Asn16806Asp
NR_038271.1:n.447-2203T>C (TTN-AS1)
NR_038272.1:n.2044-13475T>C (TTN-AS1)
XM_011511729.1:c.76132A>G (TTN)	XP_011510031.1:p.Asn25378Asp
XM_011511730.1:c.50026A>G (TTN)	XP_011510032.1:p.Asn16676Asp
XM_011511731.1:c.49885A>G (TTN)	XP_011510033.1:p.Asn16629Asp
XM_017004819.1:c.75928A>G (TTN)	XP_016860308.1:p.Asn25310Asp
XM_017004820.1:c.71326A>G (TTN)	XP_016860309.1:p.Asn23776Asp
XM_017004821.1:c.71323A>G (TTN)	XP_016860310.1:p.Asn23775Asp
XM_017004822.1:c.68365A>G (TTN)	XP_016860311.1:p.Asn22789Asp
XM_017004823.1:c.49981A>G (TTN)	XP_016860312.1:p.Asn16661Asp
XM_024453094.1:c.71476A>G (TTN)	XP_024308862.1:p.Asn23826Asp
XM_024453095.1:c.71473A>G (TTN)	XP_024308863.1:p.Asn23825Asp
XM_024453096.1:c.70906A>G (TTN)	XP_024308864.1:p.Asn23636Asp
XM_024453097.1:c.68248A>G (TTN)	XP_024308865.1:p.Asn22750Asp
XM_024453098.1:c.68167A>G (TTN)	XP_024308866.1:p.Asn22723Asp
XM_024453099.1:c.49930A>G (TTN)	XP_024308867.1:p.Asn16644Asp
XM_024453100.1:c.39784A>G (TTN)	XP_024308868.1:p.Asn13262Asp