Canonical Allele Identifier: CA349601324

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432117T>C (hg19) ; chr2:g.178567390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567390T>C , CM000664.2:g.178567390T>C	GRCh38
NC_000002.11:g.179432117T>C , CM000664.1:g.179432117T>C	GRCh37
NC_000002.10:g.179140363T>C	NCBI36
NG_011618.3:g.268413A>G , LRG_391:g.268413A>G
NG_051363.1:g.49564T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71038A>G (TTN)	ENSP00000343764.6:p.Lys23680Glu
ENST00000342175.11:c.52123A>G (TTN)	ENSP00000340554.6:p.Lys17375Glu
ENST00000359218.10:c.51922A>G (TTN)	ENSP00000352154.5:p.Lys17308Glu
ENST00000342175.10:c.52123A>G (TTN)	ENSP00000340554.6:p.Lys17375Glu
ENST00000342992.10:c.71038A>G (TTN)	ENSP00000343764.6:p.Lys23680Glu
ENST00000359218.9:c.51922A>G (TTN)	ENSP00000352154.5:p.Lys17308Glu
ENST00000460472.6:c.51547A>G (TTN)	ENSP00000434586.1:p.Lys17183Glu
ENST00000589042.5:c.78742A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys26248Glu
ENST00000591111.5:c.73819A>G (TTN)	ENSP00000465570.1:p.Lys24607Glu
ENST00000615779.4:c.73819A>G (TTN)	ENSP00000483597.1:p.Lys24607Glu
NM_001256850.1:c.73819A>G (TTN)	NP_001243779.1:p.Lys24607Glu
NM_001267550.2:c.78742A>G (TTN) MANE Select	NP_001254479.2:p.Lys26248Glu
NM_003319.4:c.51547A>G (TTN)	NP_003310.4:p.Lys17183Glu
NM_133378.4:c.71038A>G (TTN)	NP_596869.4:p.Lys23680Glu
NM_133432.3:c.51922A>G (TTN)	NP_597676.3:p.Lys17308Glu
NM_133437.4:c.52123A>G (TTN)	NP_597681.4:p.Lys17375Glu
NR_038271.1:n.447-3910T>C (TTN-AS1)
NR_038272.1:n.2044-15182T>C (TTN-AS1)
XM_011511729.1:c.77839A>G (TTN)	XP_011510031.1:p.Lys25947Glu
XM_011511730.1:c.51733A>G (TTN)	XP_011510032.1:p.Lys17245Glu
XM_011511731.1:c.51592A>G (TTN)	XP_011510033.1:p.Lys17198Glu
XM_017004819.1:c.77635A>G (TTN)	XP_016860308.1:p.Lys25879Glu
XM_017004820.1:c.73033A>G (TTN)	XP_016860309.1:p.Lys24345Glu
XM_017004821.1:c.73030A>G (TTN)	XP_016860310.1:p.Lys24344Glu
XM_017004822.1:c.70072A>G (TTN)	XP_016860311.1:p.Lys23358Glu
XM_017004823.1:c.51688A>G (TTN)	XP_016860312.1:p.Lys17230Glu
XM_024453094.1:c.73183A>G (TTN)	XP_024308862.1:p.Lys24395Glu
XM_024453095.1:c.73180A>G (TTN)	XP_024308863.1:p.Lys24394Glu
XM_024453096.1:c.72613A>G (TTN)	XP_024308864.1:p.Lys24205Glu
XM_024453097.1:c.69955A>G (TTN)	XP_024308865.1:p.Lys23319Glu
XM_024453098.1:c.69874A>G (TTN)	XP_024308866.1:p.Lys23292Glu
XM_024453099.1:c.51637A>G (TTN)	XP_024308867.1:p.Lys17213Glu
XM_024453100.1:c.41491A>G (TTN)	XP_024308868.1:p.Lys13831Glu