Canonical Allele Identifier: CA309520

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202529
• ClinVar RCV Id: RCV001383196 ; RCV001808462 ; RCV002516949 ; RCV003228796
• dbSNP Id: rs757082154
• ExAC: 2:179392218 G / A
• gnomAD v2: 2-179392218-G-A
• gnomAD v4: 2-178527491-G-A
• MyVariant Identifiers: chr2:g.179392218G>A (hg19) ; chr2:g.178527491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527491G>A , CM000664.2:g.178527491G>A	GRCh38
NC_000002.11:g.179392218G>A , CM000664.1:g.179392218G>A	GRCh37
NC_000002.10:g.179100464G>A	NCBI36
NG_011618.3:g.308312C>T , LRG_391:g.308312C>T
NG_051363.1:g.9665G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.99931C>T (TTN)	ENSP00000343764.6:p.Gln33311Ter
ENST00000342175.11:c.81016C>T (TTN)	ENSP00000340554.6:p.Gln27006Ter
ENST00000359218.10:c.80815C>T (TTN)	ENSP00000352154.5:p.Gln26939Ter
ENST00000342175.10:c.81016C>T (TTN)	ENSP00000340554.6:p.Gln27006Ter
ENST00000342992.10:c.99931C>T (TTN)	ENSP00000343764.6:p.Gln33311Ter
ENST00000359218.9:c.80815C>T (TTN)	ENSP00000352154.5:p.Gln26939Ter
ENST00000460472.6:c.80440C>T (TTN)	ENSP00000434586.1:p.Gln26814Ter
ENST00000589042.5:c.107635C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35879Ter
ENST00000591111.5:c.102712C>T (TTN)	ENSP00000465570.1:p.Gln34238Ter
ENST00000615779.4:c.102712C>T (TTN)	ENSP00000483597.1:p.Gln34238Ter
NM_001256850.1:c.102712C>T (TTN)	NP_001243779.1:p.Gln34238Ter
NM_001267550.2:c.107635C>T (TTN) MANE Select	NP_001254479.2:p.Gln35879Ter
NM_003319.4:c.80440C>T (TTN)	NP_003310.4:p.Gln26814Ter
NM_133378.4:c.99931C>T (TTN)	NP_596869.4:p.Gln33311Ter
NM_133432.3:c.80815C>T (TTN)	NP_597676.3:p.Gln26939Ter
NM_133437.4:c.81016C>T (TTN)	NP_597681.4:p.Gln27006Ter
NR_038271.1:n.446+3855G>A (TTN-AS1)
NR_038272.1:n.219+3855G>A (TTN-AS1)
XM_011511729.1:c.106732C>T (TTN)	XP_011510031.1:p.Gln35578Ter
XM_011511730.1:c.80626C>T (TTN)	XP_011510032.1:p.Gln26876Ter
XM_011511731.1:c.80485C>T (TTN)	XP_011510033.1:p.Gln26829Ter
XM_017004819.1:c.106528C>T (TTN)	XP_016860308.1:p.Gln35510Ter
XM_017004820.1:c.101926C>T (TTN)	XP_016860309.1:p.Gln33976Ter
XM_017004821.1:c.101923C>T (TTN)	XP_016860310.1:p.Gln33975Ter
XM_017004822.1:c.98965C>T (TTN)	XP_016860311.1:p.Gln32989Ter
XM_017004823.1:c.80581C>T (TTN)	XP_016860312.1:p.Gln26861Ter
XM_024453094.1:c.102076C>T (TTN)	XP_024308862.1:p.Gln34026Ter
XM_024453095.1:c.102073C>T (TTN)	XP_024308863.1:p.Gln34025Ter
XM_024453096.1:c.101506C>T (TTN)	XP_024308864.1:p.Gln33836Ter
XM_024453097.1:c.98848C>T (TTN)	XP_024308865.1:p.Gln32950Ter
XM_024453098.1:c.98767C>T (TTN)	XP_024308866.1:p.Gln32923Ter
XM_024453099.1:c.80530C>T (TTN)	XP_024308867.1:p.Gln26844Ter
XM_024453100.1:c.70384C>T (TTN)	XP_024308868.1:p.Gln23462Ter