Canonical Allele Identifier: CA349411785

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2021831
• ClinVar RCV Id: RCV002847316
• MyVariant Identifiers: chr2:g.179396929G>C (hg19) ; chr2:g.178532202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532202G>C , CM000664.2:g.178532202G>C	GRCh38
NC_000002.11:g.179396929G>C , CM000664.1:g.179396929G>C	GRCh37
NC_000002.10:g.179105175G>C	NCBI36
NG_011618.3:g.303601C>G , LRG_391:g.303601C>G
NG_051363.1:g.14376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96709C>G (TTN)	ENSP00000343764.6:p.Arg32237Gly
ENST00000342175.11:c.77794C>G (TTN)	ENSP00000340554.6:p.Arg25932Gly
ENST00000359218.10:c.77593C>G (TTN)	ENSP00000352154.5:p.Arg25865Gly
ENST00000342175.10:c.77794C>G (TTN)	ENSP00000340554.6:p.Arg25932Gly
ENST00000342992.10:c.96709C>G (TTN)	ENSP00000343764.6:p.Arg32237Gly
ENST00000359218.9:c.77593C>G (TTN)	ENSP00000352154.5:p.Arg25865Gly
ENST00000460472.6:c.77218C>G (TTN)	ENSP00000434586.1:p.Arg25740Gly
ENST00000589042.5:c.104413C>G (TTN) MANE Select	ENSP00000467141.1:p.Arg34805Gly
ENST00000591111.5:c.99490C>G (TTN)	ENSP00000465570.1:p.Arg33164Gly
ENST00000615779.4:c.99490C>G (TTN)	ENSP00000483597.1:p.Arg33164Gly
NM_001256850.1:c.99490C>G (TTN)	NP_001243779.1:p.Arg33164Gly
NM_001267550.2:c.104413C>G (TTN) MANE Select	NP_001254479.2:p.Arg34805Gly
NM_003319.4:c.77218C>G (TTN)	NP_003310.4:p.Arg25740Gly
NM_133378.4:c.96709C>G (TTN)	NP_596869.4:p.Arg32237Gly
NM_133432.3:c.77593C>G (TTN)	NP_597676.3:p.Arg25865Gly
NM_133437.4:c.77794C>G (TTN)	NP_597681.4:p.Arg25932Gly
NR_038271.1:n.446+8566G>C (TTN-AS1)
NR_038272.1:n.220-3530G>C (TTN-AS1)
XM_011511729.1:c.103510C>G (TTN)	XP_011510031.1:p.Arg34504Gly
XM_011511730.1:c.77404C>G (TTN)	XP_011510032.1:p.Arg25802Gly
XM_011511731.1:c.77263C>G (TTN)	XP_011510033.1:p.Arg25755Gly
XM_017004819.1:c.103306C>G (TTN)	XP_016860308.1:p.Arg34436Gly
XM_017004820.1:c.98704C>G (TTN)	XP_016860309.1:p.Arg32902Gly
XM_017004821.1:c.98701C>G (TTN)	XP_016860310.1:p.Arg32901Gly
XM_017004822.1:c.95743C>G (TTN)	XP_016860311.1:p.Arg31915Gly
XM_017004823.1:c.77359C>G (TTN)	XP_016860312.1:p.Arg25787Gly
XM_024453094.1:c.98854C>G (TTN)	XP_024308862.1:p.Arg32952Gly
XM_024453095.1:c.98851C>G (TTN)	XP_024308863.1:p.Arg32951Gly
XM_024453096.1:c.98284C>G (TTN)	XP_024308864.1:p.Arg32762Gly
XM_024453097.1:c.95626C>G (TTN)	XP_024308865.1:p.Arg31876Gly
XM_024453098.1:c.95545C>G (TTN)	XP_024308866.1:p.Arg31849Gly
XM_024453099.1:c.77308C>G (TTN)	XP_024308867.1:p.Arg25770Gly
XM_024453100.1:c.67162C>G (TTN)	XP_024308868.1:p.Arg22388Gly