Canonical Allele Identifier: CA60968658

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1730619
• ClinVar RCV Id: RCV002321087
• dbSNP Id: rs945591043
• gnomAD v3: 2-178590911-G-A
• gnomAD v4: 2-178590911-G-A
• MyVariant Identifiers: chr2:g.179455638G>A (hg19) ; chr2:g.178590911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590911G>A , CM000664.2:g.178590911G>A	GRCh38
NC_000002.11:g.179455638G>A , CM000664.1:g.179455638G>A	GRCh37
NC_000002.10:g.179163884G>A	NCBI36
NG_011618.3:g.244892C>T , LRG_391:g.244892C>T
NG_051363.1:g.73085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53110C>T (TTN)	ENSP00000343764.6:p.Pro17704Ser
ENST00000342175.11:c.34195C>T (TTN)	ENSP00000340554.6:p.Pro11399Ser
ENST00000359218.10:c.33994C>T (TTN)	ENSP00000352154.5:p.Pro11332Ser
ENST00000342175.10:c.34195C>T (TTN)	ENSP00000340554.6:p.Pro11399Ser
ENST00000342992.10:c.53110C>T (TTN)	ENSP00000343764.6:p.Pro17704Ser
ENST00000359218.9:c.33994C>T (TTN)	ENSP00000352154.5:p.Pro11332Ser
ENST00000460472.6:c.33619C>T (TTN)	ENSP00000434586.1:p.Pro11207Ser
ENST00000589042.5:c.60814C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro20272Ser
ENST00000591111.5:c.55891C>T (TTN)	ENSP00000465570.1:p.Pro18631Ser
ENST00000615779.4:c.55891C>T (TTN)	ENSP00000483597.1:p.Pro18631Ser
NM_001256850.1:c.55891C>T (TTN)	NP_001243779.1:p.Pro18631Ser
NM_001267550.2:c.60814C>T (TTN) MANE Select	NP_001254479.2:p.Pro20272Ser
NM_003319.4:c.33619C>T (TTN)	NP_003310.4:p.Pro11207Ser
NM_133378.4:c.53110C>T (TTN)	NP_596869.4:p.Pro17704Ser
NM_133432.3:c.33994C>T (TTN)	NP_597676.3:p.Pro11332Ser
NM_133437.4:c.34195C>T (TTN)	NP_597681.4:p.Pro11399Ser
NR_038271.1:n.597-6685G>A (TTN-AS1)
NR_038272.1:n.3189-228G>A (TTN-AS1)
XM_011511729.1:c.59911C>T (TTN)	XP_011510031.1:p.Pro19971Ser
XM_011511730.1:c.33805C>T (TTN)	XP_011510032.1:p.Pro11269Ser
XM_011511731.1:c.33664C>T (TTN)	XP_011510033.1:p.Pro11222Ser
XM_017004819.1:c.59707C>T (TTN)	XP_016860308.1:p.Pro19903Ser
XM_017004820.1:c.55105C>T (TTN)	XP_016860309.1:p.Pro18369Ser
XM_017004821.1:c.55102C>T (TTN)	XP_016860310.1:p.Pro18368Ser
XM_017004822.1:c.52144C>T (TTN)	XP_016860311.1:p.Pro17382Ser
XM_017004823.1:c.33760C>T (TTN)	XP_016860312.1:p.Pro11254Ser
XM_024453094.1:c.55255C>T (TTN)	XP_024308862.1:p.Pro18419Ser
XM_024453095.1:c.55252C>T (TTN)	XP_024308863.1:p.Pro18418Ser
XM_024453096.1:c.54685C>T (TTN)	XP_024308864.1:p.Pro18229Ser
XM_024453097.1:c.52027C>T (TTN)	XP_024308865.1:p.Pro17343Ser
XM_024453098.1:c.51946C>T (TTN)	XP_024308866.1:p.Pro17316Ser
XM_024453099.1:c.33709C>T (TTN)	XP_024308867.1:p.Pro11237Ser
XM_024453100.1:c.23563C>T (TTN)	XP_024308868.1:p.Pro7855Ser