Canonical Allele Identifier: CA349454338

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544100-T-C
• MyVariant Identifiers: chr2:g.179408827T>C (hg19) ; chr2:g.178544100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544100T>C , CM000664.2:g.178544100T>C	GRCh38
NC_000002.11:g.179408827T>C , CM000664.1:g.179408827T>C	GRCh37
NC_000002.10:g.179117073T>C	NCBI36
NG_011618.3:g.291703A>G , LRG_391:g.291703A>G
NG_051363.1:g.26274T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88340A>G (TTN)	ENSP00000343764.6:p.Glu29447Gly
ENST00000342175.11:c.69425A>G (TTN)	ENSP00000340554.6:p.Glu23142Gly
ENST00000359218.10:c.69224A>G (TTN)	ENSP00000352154.5:p.Glu23075Gly
ENST00000342175.10:c.69425A>G (TTN)	ENSP00000340554.6:p.Glu23142Gly
ENST00000342992.10:c.88340A>G (TTN)	ENSP00000343764.6:p.Glu29447Gly
ENST00000359218.9:c.69224A>G (TTN)	ENSP00000352154.5:p.Glu23075Gly
ENST00000460472.6:c.68849A>G (TTN)	ENSP00000434586.1:p.Glu22950Gly
ENST00000589042.5:c.96044A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu32015Gly
ENST00000591111.5:c.91121A>G (TTN)	ENSP00000465570.1:p.Glu30374Gly
ENST00000615779.4:c.91121A>G (TTN)	ENSP00000483597.1:p.Glu30374Gly
NM_001256850.1:c.91121A>G (TTN)	NP_001243779.1:p.Glu30374Gly
NM_001267550.2:c.96044A>G (TTN) MANE Select	NP_001254479.2:p.Glu32015Gly
NM_003319.4:c.68849A>G (TTN)	NP_003310.4:p.Glu22950Gly
NM_133378.4:c.88340A>G (TTN)	NP_596869.4:p.Glu29447Gly
NM_133432.3:c.69224A>G (TTN)	NP_597676.3:p.Glu23075Gly
NM_133437.4:c.69425A>G (TTN)	NP_597681.4:p.Glu23142Gly
NR_038271.1:n.446+20464T>C (TTN-AS1)
NR_038272.1:n.2043+1739T>C (TTN-AS1)
XM_011511729.1:c.95141A>G (TTN)	XP_011510031.1:p.Glu31714Gly
XM_011511730.1:c.69035A>G (TTN)	XP_011510032.1:p.Glu23012Gly
XM_011511731.1:c.68894A>G (TTN)	XP_011510033.1:p.Glu22965Gly
XM_017004819.1:c.94937A>G (TTN)	XP_016860308.1:p.Glu31646Gly
XM_017004820.1:c.90335A>G (TTN)	XP_016860309.1:p.Glu30112Gly
XM_017004821.1:c.90332A>G (TTN)	XP_016860310.1:p.Glu30111Gly
XM_017004822.1:c.87374A>G (TTN)	XP_016860311.1:p.Glu29125Gly
XM_017004823.1:c.68990A>G (TTN)	XP_016860312.1:p.Glu22997Gly
XM_024453094.1:c.90485A>G (TTN)	XP_024308862.1:p.Glu30162Gly
XM_024453095.1:c.90482A>G (TTN)	XP_024308863.1:p.Glu30161Gly
XM_024453096.1:c.89915A>G (TTN)	XP_024308864.1:p.Glu29972Gly
XM_024453097.1:c.87257A>G (TTN)	XP_024308865.1:p.Glu29086Gly
XM_024453098.1:c.87176A>G (TTN)	XP_024308866.1:p.Glu29059Gly
XM_024453099.1:c.68939A>G (TTN)	XP_024308867.1:p.Glu22980Gly
XM_024453100.1:c.58793A>G (TTN)	XP_024308868.1:p.Glu19598Gly