Canonical Allele Identifier: CA310611

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202893
• ClinVar RCV Id: RCV000216901 ; RCV000242789 ; RCV000462467 ; RCV000852808 ; RCV001129607 ; RCV001129608 ; RCV001129609 ; RCV001129610 ; RCV001129611 ; RCV001170792 ; RCV001721163
• dbSNP Id: rs183844833
• ExAC: 2:179431159 T / C
• gnomAD v2: 2-179431159-T-C
• gnomAD v3: 2-178566432-T-C
• gnomAD v4: 2-178566432-T-C
• MyVariant Identifiers: chr2:g.179431159T>C (hg19) ; chr2:g.178566432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566432T>C , CM000664.2:g.178566432T>C	GRCh38
NC_000002.11:g.179431159T>C , CM000664.1:g.179431159T>C	GRCh37
NC_000002.10:g.179139405T>C	NCBI36
NG_011618.3:g.269371A>G , LRG_391:g.269371A>G
NG_051363.1:g.48606T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71996A>G (TTN)	ENSP00000343764.6:p.Asn23999Ser
ENST00000342175.11:c.53081A>G (TTN)	ENSP00000340554.6:p.Asn17694Ser
ENST00000359218.10:c.52880A>G (TTN)	ENSP00000352154.5:p.Asn17627Ser
ENST00000342175.10:c.53081A>G (TTN)	ENSP00000340554.6:p.Asn17694Ser
ENST00000342992.10:c.71996A>G (TTN)	ENSP00000343764.6:p.Asn23999Ser
ENST00000359218.9:c.52880A>G (TTN)	ENSP00000352154.5:p.Asn17627Ser
ENST00000460472.6:c.52505A>G (TTN)	ENSP00000434586.1:p.Asn17502Ser
ENST00000589042.5:c.79700A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn26567Ser
ENST00000591111.5:c.74777A>G (TTN)	ENSP00000465570.1:p.Asn24926Ser
ENST00000615779.4:c.74777A>G (TTN)	ENSP00000483597.1:p.Asn24926Ser
NM_001256850.1:c.74777A>G (TTN)	NP_001243779.1:p.Asn24926Ser
NM_001267550.2:c.79700A>G (TTN) MANE Select	NP_001254479.2:p.Asn26567Ser
NM_003319.4:c.52505A>G (TTN)	NP_003310.4:p.Asn17502Ser
NM_133378.4:c.71996A>G (TTN)	NP_596869.4:p.Asn23999Ser
NM_133432.3:c.52880A>G (TTN)	NP_597676.3:p.Asn17627Ser
NM_133437.4:c.53081A>G (TTN)	NP_597681.4:p.Asn17694Ser
NR_038271.1:n.447-4868T>C (TTN-AS1)
NR_038272.1:n.2044-16140T>C (TTN-AS1)
XM_011511729.1:c.78797A>G (TTN)	XP_011510031.1:p.Asn26266Ser
XM_011511730.1:c.52691A>G (TTN)	XP_011510032.1:p.Asn17564Ser
XM_011511731.1:c.52550A>G (TTN)	XP_011510033.1:p.Asn17517Ser
XM_017004819.1:c.78593A>G (TTN)	XP_016860308.1:p.Asn26198Ser
XM_017004820.1:c.73991A>G (TTN)	XP_016860309.1:p.Asn24664Ser
XM_017004821.1:c.73988A>G (TTN)	XP_016860310.1:p.Asn24663Ser
XM_017004822.1:c.71030A>G (TTN)	XP_016860311.1:p.Asn23677Ser
XM_017004823.1:c.52646A>G (TTN)	XP_016860312.1:p.Asn17549Ser
XM_024453094.1:c.74141A>G (TTN)	XP_024308862.1:p.Asn24714Ser
XM_024453095.1:c.74138A>G (TTN)	XP_024308863.1:p.Asn24713Ser
XM_024453096.1:c.73571A>G (TTN)	XP_024308864.1:p.Asn24524Ser
XM_024453097.1:c.70913A>G (TTN)	XP_024308865.1:p.Asn23638Ser
XM_024453098.1:c.70832A>G (TTN)	XP_024308866.1:p.Asn23611Ser
XM_024453099.1:c.52595A>G (TTN)	XP_024308867.1:p.Asn17532Ser
XM_024453100.1:c.42449A>G (TTN)	XP_024308868.1:p.Asn14150Ser