Canonical Allele Identifier: CA349496050

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414543T>C (hg19) ; chr2:g.178549816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549816T>C , CM000664.2:g.178549816T>C	GRCh38
NC_000002.11:g.179414543T>C , CM000664.1:g.179414543T>C	GRCh37
NC_000002.10:g.179122789T>C	NCBI36
NG_011618.3:g.285987A>G , LRG_391:g.285987A>G
NG_051363.1:g.31990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84202A>G (TTN)	ENSP00000343764.6:p.Lys28068Glu
ENST00000342175.11:c.65287A>G (TTN)	ENSP00000340554.6:p.Lys21763Glu
ENST00000359218.10:c.65086A>G (TTN)	ENSP00000352154.5:p.Lys21696Glu
ENST00000342175.10:c.65287A>G (TTN)	ENSP00000340554.6:p.Lys21763Glu
ENST00000342992.10:c.84202A>G (TTN)	ENSP00000343764.6:p.Lys28068Glu
ENST00000359218.9:c.65086A>G (TTN)	ENSP00000352154.5:p.Lys21696Glu
ENST00000460472.6:c.64711A>G (TTN)	ENSP00000434586.1:p.Lys21571Glu
ENST00000589042.5:c.91906A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys30636Glu
ENST00000591111.5:c.86983A>G (TTN)	ENSP00000465570.1:p.Lys28995Glu
ENST00000615779.4:c.86983A>G (TTN)	ENSP00000483597.1:p.Lys28995Glu
NM_001256850.1:c.86983A>G (TTN)	NP_001243779.1:p.Lys28995Glu
NM_001267550.2:c.91906A>G (TTN) MANE Select	NP_001254479.2:p.Lys30636Glu
NM_003319.4:c.64711A>G (TTN)	NP_003310.4:p.Lys21571Glu
NM_133378.4:c.84202A>G (TTN)	NP_596869.4:p.Lys28068Glu
NM_133432.3:c.65086A>G (TTN)	NP_597676.3:p.Lys21696Glu
NM_133437.4:c.65287A>G (TTN)	NP_597681.4:p.Lys21763Glu
NR_038271.1:n.447-21484T>C (TTN-AS1)
NR_038272.1:n.2043+7455T>C (TTN-AS1)
XM_011511729.1:c.91003A>G (TTN)	XP_011510031.1:p.Lys30335Glu
XM_011511730.1:c.64897A>G (TTN)	XP_011510032.1:p.Lys21633Glu
XM_011511731.1:c.64756A>G (TTN)	XP_011510033.1:p.Lys21586Glu
XM_017004819.1:c.90799A>G (TTN)	XP_016860308.1:p.Lys30267Glu
XM_017004820.1:c.86197A>G (TTN)	XP_016860309.1:p.Lys28733Glu
XM_017004821.1:c.86194A>G (TTN)	XP_016860310.1:p.Lys28732Glu
XM_017004822.1:c.83236A>G (TTN)	XP_016860311.1:p.Lys27746Glu
XM_017004823.1:c.64852A>G (TTN)	XP_016860312.1:p.Lys21618Glu
XM_024453094.1:c.86347A>G (TTN)	XP_024308862.1:p.Lys28783Glu
XM_024453095.1:c.86344A>G (TTN)	XP_024308863.1:p.Lys28782Glu
XM_024453096.1:c.85777A>G (TTN)	XP_024308864.1:p.Lys28593Glu
XM_024453097.1:c.83119A>G (TTN)	XP_024308865.1:p.Lys27707Glu
XM_024453098.1:c.83038A>G (TTN)	XP_024308866.1:p.Lys27680Glu
XM_024453099.1:c.64801A>G (TTN)	XP_024308867.1:p.Lys21601Glu
XM_024453100.1:c.54655A>G (TTN)	XP_024308868.1:p.Lys18219Glu