Canonical Allele Identifier: CA349454837

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 586909
• ClinVar RCV Id: RCV000714126
• dbSNP Id: rs1205390409
• gnomAD v3: 2-178544209-T-C
• gnomAD v4: 2-178544209-T-C
• MyVariant Identifiers: chr2:g.179408936T>C (hg19) ; chr2:g.178544209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544209T>C , CM000664.2:g.178544209T>C	GRCh38
NC_000002.11:g.179408936T>C , CM000664.1:g.179408936T>C	GRCh37
NC_000002.10:g.179117182T>C	NCBI36
NG_011618.3:g.291594A>G , LRG_391:g.291594A>G
NG_051363.1:g.26383T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88316A>G (TTN)	ENSP00000343764.6:p.Glu29439Gly
ENST00000342175.11:c.69401A>G (TTN)	ENSP00000340554.6:p.Glu23134Gly
ENST00000359218.10:c.69200A>G (TTN)	ENSP00000352154.5:p.Glu23067Gly
ENST00000342175.10:c.69401A>G (TTN)	ENSP00000340554.6:p.Glu23134Gly
ENST00000342992.10:c.88316A>G (TTN)	ENSP00000343764.6:p.Glu29439Gly
ENST00000359218.9:c.69200A>G (TTN)	ENSP00000352154.5:p.Glu23067Gly
ENST00000460472.6:c.68825A>G (TTN)	ENSP00000434586.1:p.Glu22942Gly
ENST00000589042.5:c.96020A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu32007Gly
ENST00000591111.5:c.91097A>G (TTN)	ENSP00000465570.1:p.Glu30366Gly
ENST00000615779.4:c.91097A>G (TTN)	ENSP00000483597.1:p.Glu30366Gly
NM_001256850.1:c.91097A>G (TTN)	NP_001243779.1:p.Glu30366Gly
NM_001267550.2:c.96020A>G (TTN) MANE Select	NP_001254479.2:p.Glu32007Gly
NM_003319.4:c.68825A>G (TTN)	NP_003310.4:p.Glu22942Gly
NM_133378.4:c.88316A>G (TTN)	NP_596869.4:p.Glu29439Gly
NM_133432.3:c.69200A>G (TTN)	NP_597676.3:p.Glu23067Gly
NM_133437.4:c.69401A>G (TTN)	NP_597681.4:p.Glu23134Gly
NR_038271.1:n.446+20573T>C (TTN-AS1)
NR_038272.1:n.2043+1848T>C (TTN-AS1)
XM_011511729.1:c.95117A>G (TTN)	XP_011510031.1:p.Glu31706Gly
XM_011511730.1:c.69011A>G (TTN)	XP_011510032.1:p.Glu23004Gly
XM_011511731.1:c.68870A>G (TTN)	XP_011510033.1:p.Glu22957Gly
XM_017004819.1:c.94913A>G (TTN)	XP_016860308.1:p.Glu31638Gly
XM_017004820.1:c.90311A>G (TTN)	XP_016860309.1:p.Glu30104Gly
XM_017004821.1:c.90308A>G (TTN)	XP_016860310.1:p.Glu30103Gly
XM_017004822.1:c.87350A>G (TTN)	XP_016860311.1:p.Glu29117Gly
XM_017004823.1:c.68966A>G (TTN)	XP_016860312.1:p.Glu22989Gly
XM_024453094.1:c.90461A>G (TTN)	XP_024308862.1:p.Glu30154Gly
XM_024453095.1:c.90458A>G (TTN)	XP_024308863.1:p.Glu30153Gly
XM_024453096.1:c.89891A>G (TTN)	XP_024308864.1:p.Glu29964Gly
XM_024453097.1:c.87233A>G (TTN)	XP_024308865.1:p.Glu29078Gly
XM_024453098.1:c.87152A>G (TTN)	XP_024308866.1:p.Glu29051Gly
XM_024453099.1:c.68915A>G (TTN)	XP_024308867.1:p.Glu22972Gly
XM_024453100.1:c.58769A>G (TTN)	XP_024308868.1:p.Glu19590Gly