Canonical Allele Identifier: CA349471624

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411505C>A (hg19) ; chr2:g.178546778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546778C>A , CM000664.2:g.178546778C>A	GRCh38
NC_000002.11:g.179411505C>A , CM000664.1:g.179411505C>A	GRCh37
NC_000002.10:g.179119751C>A	NCBI36
NG_011618.3:g.289025G>T , LRG_391:g.289025G>T
NG_051363.1:g.28952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86946G>T (TTN)	ENSP00000343764.6:p.Glu28982Asp
ENST00000342175.11:c.68031G>T (TTN)	ENSP00000340554.6:p.Glu22677Asp
ENST00000359218.10:c.67830G>T (TTN)	ENSP00000352154.5:p.Glu22610Asp
ENST00000342175.10:c.68031G>T (TTN)	ENSP00000340554.6:p.Glu22677Asp
ENST00000342992.10:c.86946G>T (TTN)	ENSP00000343764.6:p.Glu28982Asp
ENST00000359218.9:c.67830G>T (TTN)	ENSP00000352154.5:p.Glu22610Asp
ENST00000460472.6:c.67455G>T (TTN)	ENSP00000434586.1:p.Glu22485Asp
ENST00000589042.5:c.94650G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31550Asp
ENST00000591111.5:c.89727G>T (TTN)	ENSP00000465570.1:p.Glu29909Asp
ENST00000615779.4:c.89727G>T (TTN)	ENSP00000483597.1:p.Glu29909Asp
NM_001256850.1:c.89727G>T (TTN)	NP_001243779.1:p.Glu29909Asp
NM_001267550.2:c.94650G>T (TTN) MANE Select	NP_001254479.2:p.Glu31550Asp
NM_003319.4:c.67455G>T (TTN)	NP_003310.4:p.Glu22485Asp
NM_133378.4:c.86946G>T (TTN)	NP_596869.4:p.Glu28982Asp
NM_133432.3:c.67830G>T (TTN)	NP_597676.3:p.Glu22610Asp
NM_133437.4:c.68031G>T (TTN)	NP_597681.4:p.Glu22677Asp
NR_038271.1:n.446+23142C>A (TTN-AS1)
NR_038272.1:n.2043+4417C>A (TTN-AS1)
XM_011511729.1:c.93747G>T (TTN)	XP_011510031.1:p.Glu31249Asp
XM_011511730.1:c.67641G>T (TTN)	XP_011510032.1:p.Glu22547Asp
XM_011511731.1:c.67500G>T (TTN)	XP_011510033.1:p.Glu22500Asp
XM_017004819.1:c.93543G>T (TTN)	XP_016860308.1:p.Glu31181Asp
XM_017004820.1:c.88941G>T (TTN)	XP_016860309.1:p.Glu29647Asp
XM_017004821.1:c.88938G>T (TTN)	XP_016860310.1:p.Glu29646Asp
XM_017004822.1:c.85980G>T (TTN)	XP_016860311.1:p.Glu28660Asp
XM_017004823.1:c.67596G>T (TTN)	XP_016860312.1:p.Glu22532Asp
XM_024453094.1:c.89091G>T (TTN)	XP_024308862.1:p.Glu29697Asp
XM_024453095.1:c.89088G>T (TTN)	XP_024308863.1:p.Glu29696Asp
XM_024453096.1:c.88521G>T (TTN)	XP_024308864.1:p.Glu29507Asp
XM_024453097.1:c.85863G>T (TTN)	XP_024308865.1:p.Glu28621Asp
XM_024453098.1:c.85782G>T (TTN)	XP_024308866.1:p.Glu28594Asp
XM_024453099.1:c.67545G>T (TTN)	XP_024308867.1:p.Glu22515Asp
XM_024453100.1:c.57399G>T (TTN)	XP_024308868.1:p.Glu19133Asp