Canonical Allele Identifier: CA349628100

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs182161195
• gnomAD v2: 2-179435665-T-G
• gnomAD v4: 2-178570938-T-G
• MyVariant Identifiers: chr2:g.179435665T>G (hg19) ; chr2:g.178570938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570938T>G , CM000664.2:g.178570938T>G	GRCh38
NC_000002.11:g.179435665T>G , CM000664.1:g.179435665T>G	GRCh37
NC_000002.10:g.179143911T>G	NCBI36
NG_011618.3:g.264865A>C , LRG_391:g.264865A>C
NG_051363.1:g.53112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67490A>C (TTN)	ENSP00000343764.6:p.His22497Pro
ENST00000342175.11:c.48575A>C (TTN)	ENSP00000340554.6:p.His16192Pro
ENST00000359218.10:c.48374A>C (TTN)	ENSP00000352154.5:p.His16125Pro
ENST00000342175.10:c.48575A>C (TTN)	ENSP00000340554.6:p.His16192Pro
ENST00000342992.10:c.67490A>C (TTN)	ENSP00000343764.6:p.His22497Pro
ENST00000359218.9:c.48374A>C (TTN)	ENSP00000352154.5:p.His16125Pro
ENST00000460472.6:c.47999A>C (TTN)	ENSP00000434586.1:p.His16000Pro
ENST00000589042.5:c.75194A>C (TTN) MANE Select	ENSP00000467141.1:p.His25065Pro
ENST00000591111.5:c.70271A>C (TTN)	ENSP00000465570.1:p.His23424Pro
ENST00000615779.4:c.70271A>C (TTN)	ENSP00000483597.1:p.His23424Pro
NM_001256850.1:c.70271A>C (TTN)	NP_001243779.1:p.His23424Pro
NM_001267550.2:c.75194A>C (TTN) MANE Select	NP_001254479.2:p.His25065Pro
NM_003319.4:c.47999A>C (TTN)	NP_003310.4:p.His16000Pro
NM_133378.4:c.67490A>C (TTN)	NP_596869.4:p.His22497Pro
NM_133432.3:c.48374A>C (TTN)	NP_597676.3:p.His16125Pro
NM_133437.4:c.48575A>C (TTN)	NP_597681.4:p.His16192Pro
NR_038271.1:n.447-362T>G (TTN-AS1)
NR_038272.1:n.2044-11634T>G (TTN-AS1)
XM_011511729.1:c.74291A>C (TTN)	XP_011510031.1:p.His24764Pro
XM_011511730.1:c.48185A>C (TTN)	XP_011510032.1:p.His16062Pro
XM_011511731.1:c.48044A>C (TTN)	XP_011510033.1:p.His16015Pro
XM_017004819.1:c.74087A>C (TTN)	XP_016860308.1:p.His24696Pro
XM_017004820.1:c.69485A>C (TTN)	XP_016860309.1:p.His23162Pro
XM_017004821.1:c.69482A>C (TTN)	XP_016860310.1:p.His23161Pro
XM_017004822.1:c.66524A>C (TTN)	XP_016860311.1:p.His22175Pro
XM_017004823.1:c.48140A>C (TTN)	XP_016860312.1:p.His16047Pro
XM_024453094.1:c.69635A>C (TTN)	XP_024308862.1:p.His23212Pro
XM_024453095.1:c.69632A>C (TTN)	XP_024308863.1:p.His23211Pro
XM_024453096.1:c.69065A>C (TTN)	XP_024308864.1:p.His23022Pro
XM_024453097.1:c.66407A>C (TTN)	XP_024308865.1:p.His22136Pro
XM_024453098.1:c.66326A>C (TTN)	XP_024308866.1:p.His22109Pro
XM_024453099.1:c.48089A>C (TTN)	XP_024308867.1:p.His16030Pro
XM_024453100.1:c.37943A>C (TTN)	XP_024308868.1:p.His12648Pro