Canonical Allele Identifier: CA349411780

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2112120
• ClinVar RCV Id: RCV003034387
• dbSNP Id: rs1184568695
• MyVariant Identifiers: chr2:g.179396925T>G (hg19) ; chr2:g.178532198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532198T>G , CM000664.2:g.178532198T>G	GRCh38
NC_000002.11:g.179396925T>G , CM000664.1:g.179396925T>G	GRCh37
NC_000002.10:g.179105171T>G	NCBI36
NG_011618.3:g.303605A>C , LRG_391:g.303605A>C
NG_051363.1:g.14372T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96713A>C (TTN)	ENSP00000343764.6:p.Gln32238Pro
ENST00000342175.11:c.77798A>C (TTN)	ENSP00000340554.6:p.Gln25933Pro
ENST00000359218.10:c.77597A>C (TTN)	ENSP00000352154.5:p.Gln25866Pro
ENST00000342175.10:c.77798A>C (TTN)	ENSP00000340554.6:p.Gln25933Pro
ENST00000342992.10:c.96713A>C (TTN)	ENSP00000343764.6:p.Gln32238Pro
ENST00000359218.9:c.77597A>C (TTN)	ENSP00000352154.5:p.Gln25866Pro
ENST00000460472.6:c.77222A>C (TTN)	ENSP00000434586.1:p.Gln25741Pro
ENST00000589042.5:c.104417A>C (TTN) MANE Select	ENSP00000467141.1:p.Gln34806Pro
ENST00000591111.5:c.99494A>C (TTN)	ENSP00000465570.1:p.Gln33165Pro
ENST00000615779.4:c.99494A>C (TTN)	ENSP00000483597.1:p.Gln33165Pro
NM_001256850.1:c.99494A>C (TTN)	NP_001243779.1:p.Gln33165Pro
NM_001267550.2:c.104417A>C (TTN) MANE Select	NP_001254479.2:p.Gln34806Pro
NM_003319.4:c.77222A>C (TTN)	NP_003310.4:p.Gln25741Pro
NM_133378.4:c.96713A>C (TTN)	NP_596869.4:p.Gln32238Pro
NM_133432.3:c.77597A>C (TTN)	NP_597676.3:p.Gln25866Pro
NM_133437.4:c.77798A>C (TTN)	NP_597681.4:p.Gln25933Pro
NR_038271.1:n.446+8562T>G (TTN-AS1)
NR_038272.1:n.220-3534T>G (TTN-AS1)
XM_011511729.1:c.103514A>C (TTN)	XP_011510031.1:p.Gln34505Pro
XM_011511730.1:c.77408A>C (TTN)	XP_011510032.1:p.Gln25803Pro
XM_011511731.1:c.77267A>C (TTN)	XP_011510033.1:p.Gln25756Pro
XM_017004819.1:c.103310A>C (TTN)	XP_016860308.1:p.Gln34437Pro
XM_017004820.1:c.98708A>C (TTN)	XP_016860309.1:p.Gln32903Pro
XM_017004821.1:c.98705A>C (TTN)	XP_016860310.1:p.Gln32902Pro
XM_017004822.1:c.95747A>C (TTN)	XP_016860311.1:p.Gln31916Pro
XM_017004823.1:c.77363A>C (TTN)	XP_016860312.1:p.Gln25788Pro
XM_024453094.1:c.98858A>C (TTN)	XP_024308862.1:p.Gln32953Pro
XM_024453095.1:c.98855A>C (TTN)	XP_024308863.1:p.Gln32952Pro
XM_024453096.1:c.98288A>C (TTN)	XP_024308864.1:p.Gln32763Pro
XM_024453097.1:c.95630A>C (TTN)	XP_024308865.1:p.Gln31877Pro
XM_024453098.1:c.95549A>C (TTN)	XP_024308866.1:p.Gln31850Pro
XM_024453099.1:c.77312A>C (TTN)	XP_024308867.1:p.Gln25771Pro
XM_024453100.1:c.67166A>C (TTN)	XP_024308868.1:p.Gln22389Pro