Canonical Allele Identifier: CA349422836

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400519A>C (hg19) ; chr2:g.178535792A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535792A>C , CM000664.2:g.178535792A>C	GRCh38
NC_000002.11:g.179400519A>C , CM000664.1:g.179400519A>C	GRCh37
NC_000002.10:g.179108765A>C	NCBI36
NG_011618.3:g.300011T>G , LRG_391:g.300011T>G
NG_051363.1:g.17966A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.93119T>G (TTN)	ENSP00000343764.6:p.Leu31040Arg
ENST00000342175.11:c.74204T>G (TTN)	ENSP00000340554.6:p.Leu24735Arg
ENST00000359218.10:c.74003T>G (TTN)	ENSP00000352154.5:p.Leu24668Arg
ENST00000342175.10:c.74204T>G (TTN)	ENSP00000340554.6:p.Leu24735Arg
ENST00000342992.10:c.93119T>G (TTN)	ENSP00000343764.6:p.Leu31040Arg
ENST00000359218.9:c.74003T>G (TTN)	ENSP00000352154.5:p.Leu24668Arg
ENST00000460472.6:c.73628T>G (TTN)	ENSP00000434586.1:p.Leu24543Arg
ENST00000589042.5:c.100823T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu33608Arg
ENST00000591111.5:c.95900T>G (TTN)	ENSP00000465570.1:p.Leu31967Arg
ENST00000615779.4:c.95900T>G (TTN)	ENSP00000483597.1:p.Leu31967Arg
NM_001256850.1:c.95900T>G (TTN)	NP_001243779.1:p.Leu31967Arg
NM_001267550.2:c.100823T>G (TTN) MANE Select	NP_001254479.2:p.Leu33608Arg
NM_003319.4:c.73628T>G (TTN)	NP_003310.4:p.Leu24543Arg
NM_133378.4:c.93119T>G (TTN)	NP_596869.4:p.Leu31040Arg
NM_133432.3:c.74003T>G (TTN)	NP_597676.3:p.Leu24668Arg
NM_133437.4:c.74204T>G (TTN)	NP_597681.4:p.Leu24735Arg
NR_038271.1:n.446+12156A>C (TTN-AS1)
NR_038272.1:n.280A>C (TTN-AS1)
XM_011511729.1:c.99920T>G (TTN)	XP_011510031.1:p.Leu33307Arg
XM_011511730.1:c.73814T>G (TTN)	XP_011510032.1:p.Leu24605Arg
XM_011511731.1:c.73673T>G (TTN)	XP_011510033.1:p.Leu24558Arg
XM_017004819.1:c.99716T>G (TTN)	XP_016860308.1:p.Leu33239Arg
XM_017004820.1:c.95114T>G (TTN)	XP_016860309.1:p.Leu31705Arg
XM_017004821.1:c.95111T>G (TTN)	XP_016860310.1:p.Leu31704Arg
XM_017004822.1:c.92153T>G (TTN)	XP_016860311.1:p.Leu30718Arg
XM_017004823.1:c.73769T>G (TTN)	XP_016860312.1:p.Leu24590Arg
XM_024453094.1:c.95264T>G (TTN)	XP_024308862.1:p.Leu31755Arg
XM_024453095.1:c.95261T>G (TTN)	XP_024308863.1:p.Leu31754Arg
XM_024453096.1:c.94694T>G (TTN)	XP_024308864.1:p.Leu31565Arg
XM_024453097.1:c.92036T>G (TTN)	XP_024308865.1:p.Leu30679Arg
XM_024453098.1:c.91955T>G (TTN)	XP_024308866.1:p.Leu30652Arg
XM_024453099.1:c.73718T>G (TTN)	XP_024308867.1:p.Leu24573Arg
XM_024453100.1:c.63572T>G (TTN)	XP_024308868.1:p.Leu21191Arg