Canonical Allele Identifier: CA349411737

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1057272
• ClinVar RCV Id: RCV001366222
• dbSNP Id: rs1427010837
• gnomAD v3: 2-178532180-A-G
• gnomAD v4: 2-178532180-A-G
• MyVariant Identifiers: chr2:g.179396907A>G (hg19) ; chr2:g.178532180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532180A>G , CM000664.2:g.178532180A>G	GRCh38
NC_000002.11:g.179396907A>G , CM000664.1:g.179396907A>G	GRCh37
NC_000002.10:g.179105153A>G	NCBI36
NG_011618.3:g.303623T>C , LRG_391:g.303623T>C
NG_051363.1:g.14354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96731T>C (TTN)	ENSP00000343764.6:p.Ile32244Thr
ENST00000342175.11:c.77816T>C (TTN)	ENSP00000340554.6:p.Ile25939Thr
ENST00000359218.10:c.77615T>C (TTN)	ENSP00000352154.5:p.Ile25872Thr
ENST00000342175.10:c.77816T>C (TTN)	ENSP00000340554.6:p.Ile25939Thr
ENST00000342992.10:c.96731T>C (TTN)	ENSP00000343764.6:p.Ile32244Thr
ENST00000359218.9:c.77615T>C (TTN)	ENSP00000352154.5:p.Ile25872Thr
ENST00000460472.6:c.77240T>C (TTN)	ENSP00000434586.1:p.Ile25747Thr
ENST00000589042.5:c.104435T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile34812Thr
ENST00000591111.5:c.99512T>C (TTN)	ENSP00000465570.1:p.Ile33171Thr
ENST00000615779.4:c.99512T>C (TTN)	ENSP00000483597.1:p.Ile33171Thr
NM_001256850.1:c.99512T>C (TTN)	NP_001243779.1:p.Ile33171Thr
NM_001267550.2:c.104435T>C (TTN) MANE Select	NP_001254479.2:p.Ile34812Thr
NM_003319.4:c.77240T>C (TTN)	NP_003310.4:p.Ile25747Thr
NM_133378.4:c.96731T>C (TTN)	NP_596869.4:p.Ile32244Thr
NM_133432.3:c.77615T>C (TTN)	NP_597676.3:p.Ile25872Thr
NM_133437.4:c.77816T>C (TTN)	NP_597681.4:p.Ile25939Thr
NR_038271.1:n.446+8544A>G (TTN-AS1)
NR_038272.1:n.220-3552A>G (TTN-AS1)
XM_011511729.1:c.103532T>C (TTN)	XP_011510031.1:p.Ile34511Thr
XM_011511730.1:c.77426T>C (TTN)	XP_011510032.1:p.Ile25809Thr
XM_011511731.1:c.77285T>C (TTN)	XP_011510033.1:p.Ile25762Thr
XM_017004819.1:c.103328T>C (TTN)	XP_016860308.1:p.Ile34443Thr
XM_017004820.1:c.98726T>C (TTN)	XP_016860309.1:p.Ile32909Thr
XM_017004821.1:c.98723T>C (TTN)	XP_016860310.1:p.Ile32908Thr
XM_017004822.1:c.95765T>C (TTN)	XP_016860311.1:p.Ile31922Thr
XM_017004823.1:c.77381T>C (TTN)	XP_016860312.1:p.Ile25794Thr
XM_024453094.1:c.98876T>C (TTN)	XP_024308862.1:p.Ile32959Thr
XM_024453095.1:c.98873T>C (TTN)	XP_024308863.1:p.Ile32958Thr
XM_024453096.1:c.98306T>C (TTN)	XP_024308864.1:p.Ile32769Thr
XM_024453097.1:c.95648T>C (TTN)	XP_024308865.1:p.Ile31883Thr
XM_024453098.1:c.95567T>C (TTN)	XP_024308866.1:p.Ile31856Thr
XM_024453099.1:c.77330T>C (TTN)	XP_024308867.1:p.Ile25777Thr
XM_024453100.1:c.67184T>C (TTN)	XP_024308868.1:p.Ile22395Thr