Canonical Allele Identifier: CA430241698

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1755891
• ClinVar RCV Id: RCV002378009
• gnomAD v4: 2-178544316-A-C
• MyVariant Identifiers: chr2:g.179409043A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544316A>C , CM000664.2:g.178544316A>C	GRCh38
NC_000002.11:g.179409043A>C , CM000664.1:g.179409043A>C	GRCh37
NC_000002.10:g.179117289A>C	NCBI36
NG_011618.3:g.291487T>G , LRG_391:g.291487T>G
NG_051363.1:g.26490A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88209T>G (TTN)	ENSP00000343764.6:p.Thr29403=
ENST00000342175.11:c.69294T>G (TTN)	ENSP00000340554.6:p.Thr23098=
ENST00000359218.10:c.69093T>G (TTN)	ENSP00000352154.5:p.Thr23031=
ENST00000342175.10:c.69294T>G (TTN)	ENSP00000340554.6:p.Thr23098=
ENST00000342992.10:c.88209T>G (TTN)	ENSP00000343764.6:p.Thr29403=
ENST00000359218.9:c.69093T>G (TTN)	ENSP00000352154.5:p.Thr23031=
ENST00000460472.6:c.68718T>G (TTN)	ENSP00000434586.1:p.Thr22906=
ENST00000589042.5:c.95913T>G (TTN) MANE Select	ENSP00000467141.1:p.Thr31971=
ENST00000591111.5:c.90990T>G (TTN)	ENSP00000465570.1:p.Thr30330=
ENST00000615779.4:c.90990T>G (TTN)	ENSP00000483597.1:p.Thr30330=
NM_001256850.1:c.90990T>G (TTN)	NP_001243779.1:p.Thr30330=
NM_001267550.2:c.95913T>G (TTN) MANE Select	NP_001254479.2:p.Thr31971=
NM_003319.4:c.68718T>G (TTN)	NP_003310.4:p.Thr22906=
NM_133378.4:c.88209T>G (TTN)	NP_596869.4:p.Thr29403=
NM_133432.3:c.69093T>G (TTN)	NP_597676.3:p.Thr23031=
NM_133437.4:c.69294T>G (TTN)	NP_597681.4:p.Thr23098=
NR_038271.1:n.446+20680A>C (TTN-AS1)
NR_038272.1:n.2043+1955A>C (TTN-AS1)
XM_011511729.1:c.95010T>G (TTN)	XP_011510031.1:p.Thr31670=
XM_011511730.1:c.68904T>G (TTN)	XP_011510032.1:p.Thr22968=
XM_011511731.1:c.68763T>G (TTN)	XP_011510033.1:p.Thr22921=
XM_017004819.1:c.94806T>G (TTN)	XP_016860308.1:p.Thr31602=
XM_017004820.1:c.90204T>G (TTN)	XP_016860309.1:p.Thr30068=
XM_017004821.1:c.90201T>G (TTN)	XP_016860310.1:p.Thr30067=
XM_017004822.1:c.87243T>G (TTN)	XP_016860311.1:p.Thr29081=
XM_017004823.1:c.68859T>G (TTN)	XP_016860312.1:p.Thr22953=
XM_024453094.1:c.90354T>G (TTN)	XP_024308862.1:p.Thr30118=
XM_024453095.1:c.90351T>G (TTN)	XP_024308863.1:p.Thr30117=
XM_024453096.1:c.89784T>G (TTN)	XP_024308864.1:p.Thr29928=
XM_024453097.1:c.87126T>G (TTN)	XP_024308865.1:p.Thr29042=
XM_024453098.1:c.87045T>G (TTN)	XP_024308866.1:p.Thr29015=
XM_024453099.1:c.68808T>G (TTN)	XP_024308867.1:p.Thr22936=
XM_024453100.1:c.58662T>G (TTN)	XP_024308868.1:p.Thr19554=