Canonical Allele Identifier: CA430235933

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1760321
• ClinVar RCV Id: RCV002400697
• MyVariant Identifiers: chr2:g.179396936T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532209T>C , CM000664.2:g.178532209T>C	GRCh38
NC_000002.11:g.179396936T>C , CM000664.1:g.179396936T>C	GRCh37
NC_000002.10:g.179105182T>C	NCBI36
NG_011618.3:g.303594A>G , LRG_391:g.303594A>G
NG_051363.1:g.14383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96702A>G (TTN)	ENSP00000343764.6:p.Lys32234=
ENST00000342175.11:c.77787A>G (TTN)	ENSP00000340554.6:p.Lys25929=
ENST00000359218.10:c.77586A>G (TTN)	ENSP00000352154.5:p.Lys25862=
ENST00000342175.10:c.77787A>G (TTN)	ENSP00000340554.6:p.Lys25929=
ENST00000342992.10:c.96702A>G (TTN)	ENSP00000343764.6:p.Lys32234=
ENST00000359218.9:c.77586A>G (TTN)	ENSP00000352154.5:p.Lys25862=
ENST00000460472.6:c.77211A>G (TTN)	ENSP00000434586.1:p.Lys25737=
ENST00000589042.5:c.104406A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys34802=
ENST00000591111.5:c.99483A>G (TTN)	ENSP00000465570.1:p.Lys33161=
ENST00000615779.4:c.99483A>G (TTN)	ENSP00000483597.1:p.Lys33161=
NM_001256850.1:c.99483A>G (TTN)	NP_001243779.1:p.Lys33161=
NM_001267550.2:c.104406A>G (TTN) MANE Select	NP_001254479.2:p.Lys34802=
NM_003319.4:c.77211A>G (TTN)	NP_003310.4:p.Lys25737=
NM_133378.4:c.96702A>G (TTN)	NP_596869.4:p.Lys32234=
NM_133432.3:c.77586A>G (TTN)	NP_597676.3:p.Lys25862=
NM_133437.4:c.77787A>G (TTN)	NP_597681.4:p.Lys25929=
NR_038271.1:n.446+8573T>C (TTN-AS1)
NR_038272.1:n.220-3523T>C (TTN-AS1)
XM_011511729.1:c.103503A>G (TTN)	XP_011510031.1:p.Lys34501=
XM_011511730.1:c.77397A>G (TTN)	XP_011510032.1:p.Lys25799=
XM_011511731.1:c.77256A>G (TTN)	XP_011510033.1:p.Lys25752=
XM_017004819.1:c.103299A>G (TTN)	XP_016860308.1:p.Lys34433=
XM_017004820.1:c.98697A>G (TTN)	XP_016860309.1:p.Lys32899=
XM_017004821.1:c.98694A>G (TTN)	XP_016860310.1:p.Lys32898=
XM_017004822.1:c.95736A>G (TTN)	XP_016860311.1:p.Lys31912=
XM_017004823.1:c.77352A>G (TTN)	XP_016860312.1:p.Lys25784=
XM_024453094.1:c.98847A>G (TTN)	XP_024308862.1:p.Lys32949=
XM_024453095.1:c.98844A>G (TTN)	XP_024308863.1:p.Lys32948=
XM_024453096.1:c.98277A>G (TTN)	XP_024308864.1:p.Lys32759=
XM_024453097.1:c.95619A>G (TTN)	XP_024308865.1:p.Lys31873=
XM_024453098.1:c.95538A>G (TTN)	XP_024308866.1:p.Lys31846=
XM_024453099.1:c.77301A>G (TTN)	XP_024308867.1:p.Lys25767=
XM_024453100.1:c.67155A>G (TTN)	XP_024308868.1:p.Lys22385=