Canonical Allele Identifier: CA263860

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 56386
• ClinVar RCV Id: RCV000049799 ; RCV001061853 ; RCV003137590
• dbSNP Id: rs281864928
• gnomAD v2: 2-179391875-A-G
• gnomAD v3: 2-178527148-A-G
• gnomAD v4: 2-178527148-A-G
• MyVariant Identifiers: chr2:g.179391875A>G (hg19) ; chr2:g.178527148A>G (hg38)
• PubMed: PMID:12891679

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527148A>G , CM000664.2:g.178527148A>G	GRCh38
NC_000002.11:g.179391875A>G , CM000664.1:g.179391875A>G	GRCh37
NC_000002.10:g.179100121A>G	NCBI36
NG_011618.3:g.308655T>C , LRG_391:g.308655T>C
NG_051363.1:g.9322A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100136T>C (TTN)	ENSP00000343764.6:p.Ile33379Thr
ENST00000342175.11:c.81221T>C (TTN)	ENSP00000340554.6:p.Ile27074Thr
ENST00000359218.10:c.81020T>C (TTN)	ENSP00000352154.5:p.Ile27007Thr
ENST00000342175.10:c.81221T>C (TTN)	ENSP00000340554.6:p.Ile27074Thr
ENST00000342992.10:c.100136T>C (TTN)	ENSP00000343764.6:p.Ile33379Thr
ENST00000359218.9:c.81020T>C (TTN)	ENSP00000352154.5:p.Ile27007Thr
ENST00000460472.6:c.80645T>C (TTN)	ENSP00000434586.1:p.Ile26882Thr
ENST00000589042.5:c.107840T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35947Thr
ENST00000591111.5:c.102917T>C (TTN)	ENSP00000465570.1:p.Ile34306Thr
ENST00000615779.4:c.102917T>C (TTN)	ENSP00000483597.1:p.Ile34306Thr
NM_001256850.1:c.102917T>C (TTN)	NP_001243779.1:p.Ile34306Thr
NM_001267550.2:c.107840T>C (TTN) MANE Select	NP_001254479.2:p.Ile35947Thr
NM_003319.4:c.80645T>C (TTN)	NP_003310.4:p.Ile26882Thr
NM_133378.4:c.100136T>C (TTN)	NP_596869.4:p.Ile33379Thr
NM_133432.3:c.81020T>C (TTN)	NP_597676.3:p.Ile27007Thr
NM_133437.4:c.81221T>C (TTN)	NP_597681.4:p.Ile27074Thr
NR_038271.1:n.446+3512A>G (TTN-AS1)
NR_038272.1:n.219+3512A>G (TTN-AS1)
XM_011511729.1:c.106937T>C (TTN)	XP_011510031.1:p.Ile35646Thr
XM_011511730.1:c.80831T>C (TTN)	XP_011510032.1:p.Ile26944Thr
XM_011511731.1:c.80690T>C (TTN)	XP_011510033.1:p.Ile26897Thr
XM_017004819.1:c.106733T>C (TTN)	XP_016860308.1:p.Ile35578Thr
XM_017004820.1:c.102131T>C (TTN)	XP_016860309.1:p.Ile34044Thr
XM_017004821.1:c.102128T>C (TTN)	XP_016860310.1:p.Ile34043Thr
XM_017004822.1:c.99170T>C (TTN)	XP_016860311.1:p.Ile33057Thr
XM_017004823.1:c.80786T>C (TTN)	XP_016860312.1:p.Ile26929Thr
XM_024453094.1:c.102281T>C (TTN)	XP_024308862.1:p.Ile34094Thr
XM_024453095.1:c.102278T>C (TTN)	XP_024308863.1:p.Ile34093Thr
XM_024453096.1:c.101711T>C (TTN)	XP_024308864.1:p.Ile33904Thr
XM_024453097.1:c.99053T>C (TTN)	XP_024308865.1:p.Ile33018Thr
XM_024453098.1:c.98972T>C (TTN)	XP_024308866.1:p.Ile32991Thr
XM_024453099.1:c.80735T>C (TTN)	XP_024308867.1:p.Ile26912Thr
XM_024453100.1:c.70589T>C (TTN)	XP_024308868.1:p.Ile23530Thr