Canonical Allele Identifier: CA349496800

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457804G>C (hg19) ; chr2:g.178593077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593077G>C , CM000664.2:g.178593077G>C	GRCh38
NC_000002.11:g.179457804G>C , CM000664.1:g.179457804G>C	GRCh37
NC_000002.10:g.179166050G>C	NCBI36
NG_011618.3:g.242726C>G , LRG_391:g.242726C>G
NG_051363.1:g.75251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51338C>G (TTN)	ENSP00000343764.6:p.Pro17113Arg
ENST00000342175.11:c.32423C>G (TTN)	ENSP00000340554.6:p.Pro10808Arg
ENST00000359218.10:c.32222C>G (TTN)	ENSP00000352154.5:p.Pro10741Arg
ENST00000342175.10:c.32423C>G (TTN)	ENSP00000340554.6:p.Pro10808Arg
ENST00000342992.10:c.51338C>G (TTN)	ENSP00000343764.6:p.Pro17113Arg
ENST00000359218.9:c.32222C>G (TTN)	ENSP00000352154.5:p.Pro10741Arg
ENST00000460472.6:c.31847C>G (TTN)	ENSP00000434586.1:p.Pro10616Arg
ENST00000589042.5:c.59042C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19681Arg
ENST00000591111.5:c.54119C>G (TTN)	ENSP00000465570.1:p.Pro18040Arg
ENST00000615779.4:c.54119C>G (TTN)	ENSP00000483597.1:p.Pro18040Arg
NM_001256850.1:c.54119C>G (TTN)	NP_001243779.1:p.Pro18040Arg
NM_001267550.2:c.59042C>G (TTN) MANE Select	NP_001254479.2:p.Pro19681Arg
NM_003319.4:c.31847C>G (TTN)	NP_003310.4:p.Pro10616Arg
NM_133378.4:c.51338C>G (TTN)	NP_596869.4:p.Pro17113Arg
NM_133432.3:c.32222C>G (TTN)	NP_597676.3:p.Pro10741Arg
NM_133437.4:c.32423C>G (TTN)	NP_597681.4:p.Pro10808Arg
NR_038271.1:n.597-4519G>C (TTN-AS1)
NR_038272.1:n.3364+1763G>C (TTN-AS1)
XM_011511729.1:c.58139C>G (TTN)	XP_011510031.1:p.Pro19380Arg
XM_011511730.1:c.32033C>G (TTN)	XP_011510032.1:p.Pro10678Arg
XM_011511731.1:c.31892C>G (TTN)	XP_011510033.1:p.Pro10631Arg
XM_017004819.1:c.57935C>G (TTN)	XP_016860308.1:p.Pro19312Arg
XM_017004820.1:c.53333C>G (TTN)	XP_016860309.1:p.Pro17778Arg
XM_017004821.1:c.53330C>G (TTN)	XP_016860310.1:p.Pro17777Arg
XM_017004822.1:c.50372C>G (TTN)	XP_016860311.1:p.Pro16791Arg
XM_017004823.1:c.31988C>G (TTN)	XP_016860312.1:p.Pro10663Arg
XM_024453094.1:c.53483C>G (TTN)	XP_024308862.1:p.Pro17828Arg
XM_024453095.1:c.53480C>G (TTN)	XP_024308863.1:p.Pro17827Arg
XM_024453096.1:c.52913C>G (TTN)	XP_024308864.1:p.Pro17638Arg
XM_024453097.1:c.50255C>G (TTN)	XP_024308865.1:p.Pro16752Arg
XM_024453098.1:c.50174C>G (TTN)	XP_024308866.1:p.Pro16725Arg
XM_024453099.1:c.31937C>G (TTN)	XP_024308867.1:p.Pro10646Arg
XM_024453100.1:c.21791C>G (TTN)	XP_024308868.1:p.Pro7264Arg