Canonical Allele Identifier: CA349541142

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466265T>C (hg19) ; chr2:g.178601538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601538T>C , CM000664.2:g.178601538T>C	GRCh38
NC_000002.11:g.179466265T>C , CM000664.1:g.179466265T>C	GRCh37
NC_000002.10:g.179174510T>C	NCBI36
NG_011618.3:g.234265A>G , LRG_391:g.234265A>G
NG_051363.1:g.83712T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47755A>G (TTN)	ENSP00000343764.6:p.Lys15919Glu
ENST00000342175.11:c.28840A>G (TTN)	ENSP00000340554.6:p.Lys9614Glu
ENST00000359218.10:c.28639A>G (TTN)	ENSP00000352154.5:p.Lys9547Glu
ENST00000342175.10:c.28840A>G (TTN)	ENSP00000340554.6:p.Lys9614Glu
ENST00000342992.10:c.47755A>G (TTN)	ENSP00000343764.6:p.Lys15919Glu
ENST00000359218.9:c.28639A>G (TTN)	ENSP00000352154.5:p.Lys9547Glu
ENST00000460472.6:c.28264A>G (TTN)	ENSP00000434586.1:p.Lys9422Glu
ENST00000589042.5:c.55459A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys18487Glu
ENST00000591111.5:c.50536A>G (TTN)	ENSP00000465570.1:p.Lys16846Glu
ENST00000615779.4:c.50536A>G (TTN)	ENSP00000483597.1:p.Lys16846Glu
NM_001256850.1:c.50536A>G (TTN)	NP_001243779.1:p.Lys16846Glu
NM_001267550.2:c.55459A>G (TTN) MANE Select	NP_001254479.2:p.Lys18487Glu
NM_003319.4:c.28264A>G (TTN)	NP_003310.4:p.Lys9422Glu
NM_133378.4:c.47755A>G (TTN)	NP_596869.4:p.Lys15919Glu
NM_133432.3:c.28639A>G (TTN)	NP_597676.3:p.Lys9547Glu
NM_133437.4:c.28840A>G (TTN)	NP_597681.4:p.Lys9614Glu
NR_038271.1:n.682+3857T>C (TTN-AS1)
NR_038272.1:n.3917+871T>C (TTN-AS1)
XM_011511729.1:c.54556A>G (TTN)	XP_011510031.1:p.Lys18186Glu
XM_011511730.1:c.28450A>G (TTN)	XP_011510032.1:p.Lys9484Glu
XM_011511731.1:c.28309A>G (TTN)	XP_011510033.1:p.Lys9437Glu
XM_017004819.1:c.54352A>G (TTN)	XP_016860308.1:p.Lys18118Glu
XM_017004820.1:c.49750A>G (TTN)	XP_016860309.1:p.Lys16584Glu
XM_017004821.1:c.49747A>G (TTN)	XP_016860310.1:p.Lys16583Glu
XM_017004822.1:c.46789A>G (TTN)	XP_016860311.1:p.Lys15597Glu
XM_017004823.1:c.28405A>G (TTN)	XP_016860312.1:p.Lys9469Glu
XM_024453094.1:c.49900A>G (TTN)	XP_024308862.1:p.Lys16634Glu
XM_024453095.1:c.49897A>G (TTN)	XP_024308863.1:p.Lys16633Glu
XM_024453096.1:c.49330A>G (TTN)	XP_024308864.1:p.Lys16444Glu
XM_024453097.1:c.46672A>G (TTN)	XP_024308865.1:p.Lys15558Glu
XM_024453098.1:c.46591A>G (TTN)	XP_024308866.1:p.Lys15531Glu
XM_024453099.1:c.28354A>G (TTN)	XP_024308867.1:p.Lys9452Glu
XM_024453100.1:c.18208A>G (TTN)	XP_024308868.1:p.Lys6070Glu