Canonical Allele Identifier: CA349470213

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 265803
• ClinVar RCV Id: RCV000491832 ; RCV001379968
• dbSNP Id: rs1114167324
• MyVariant Identifiers: chr2:g.179454770G>C (hg19) ; chr2:g.178590043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590043G>C , CM000664.2:g.178590043G>C	GRCh38
NC_000002.11:g.179454770G>C , CM000664.1:g.179454770G>C	GRCh37
NC_000002.10:g.179163016G>C	NCBI36
NG_011618.3:g.245760C>G , LRG_391:g.245760C>G
NG_051363.1:g.72217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.53978C>G (TTN)	ENSP00000343764.6:p.Ser17993Ter
ENST00000342175.11:c.35063C>G (TTN)	ENSP00000340554.6:p.Ser11688Ter
ENST00000359218.10:c.34862C>G (TTN)	ENSP00000352154.5:p.Ser11621Ter
ENST00000342175.10:c.35063C>G (TTN)	ENSP00000340554.6:p.Ser11688Ter
ENST00000342992.10:c.53978C>G (TTN)	ENSP00000343764.6:p.Ser17993Ter
ENST00000359218.9:c.34862C>G (TTN)	ENSP00000352154.5:p.Ser11621Ter
ENST00000460472.6:c.34487C>G (TTN)	ENSP00000434586.1:p.Ser11496Ter
ENST00000589042.5:c.61682C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser20561Ter
ENST00000591111.5:c.56759C>G (TTN)	ENSP00000465570.1:p.Ser18920Ter
ENST00000615779.4:c.56759C>G (TTN)	ENSP00000483597.1:p.Ser18920Ter
NM_001256850.1:c.56759C>G (TTN)	NP_001243779.1:p.Ser18920Ter
NM_001267550.2:c.61682C>G (TTN) MANE Select	NP_001254479.2:p.Ser20561Ter
NM_003319.4:c.34487C>G (TTN)	NP_003310.4:p.Ser11496Ter
NM_133378.4:c.53978C>G (TTN)	NP_596869.4:p.Ser17993Ter
NM_133432.3:c.34862C>G (TTN)	NP_597676.3:p.Ser11621Ter
NM_133437.4:c.35063C>G (TTN)	NP_597681.4:p.Ser11688Ter
NR_038271.1:n.597-7553G>C (TTN-AS1)
NR_038272.1:n.3189-1096G>C (TTN-AS1)
XM_011511729.1:c.60779C>G (TTN)	XP_011510031.1:p.Ser20260Ter
XM_011511730.1:c.34673C>G (TTN)	XP_011510032.1:p.Ser11558Ter
XM_011511731.1:c.34532C>G (TTN)	XP_011510033.1:p.Ser11511Ter
XM_017004819.1:c.60575C>G (TTN)	XP_016860308.1:p.Ser20192Ter
XM_017004820.1:c.55973C>G (TTN)	XP_016860309.1:p.Ser18658Ter
XM_017004821.1:c.55970C>G (TTN)	XP_016860310.1:p.Ser18657Ter
XM_017004822.1:c.53012C>G (TTN)	XP_016860311.1:p.Ser17671Ter
XM_017004823.1:c.34628C>G (TTN)	XP_016860312.1:p.Ser11543Ter
XM_024453094.1:c.56123C>G (TTN)	XP_024308862.1:p.Ser18708Ter
XM_024453095.1:c.56120C>G (TTN)	XP_024308863.1:p.Ser18707Ter
XM_024453096.1:c.55553C>G (TTN)	XP_024308864.1:p.Ser18518Ter
XM_024453097.1:c.52895C>G (TTN)	XP_024308865.1:p.Ser17632Ter
XM_024453098.1:c.52814C>G (TTN)	XP_024308866.1:p.Ser17605Ter
XM_024453099.1:c.34577C>G (TTN)	XP_024308867.1:p.Ser11526Ter
XM_024453100.1:c.24431C>G (TTN)	XP_024308868.1:p.Ser8144Ter