Canonical Allele Identifier: CA349454231

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408819C>A (hg19) ; chr2:g.178544092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544092C>A , CM000664.2:g.178544092C>A	GRCh38
NC_000002.11:g.179408819C>A , CM000664.1:g.179408819C>A	GRCh37
NC_000002.10:g.179117065C>A	NCBI36
NG_011618.3:g.291711G>T , LRG_391:g.291711G>T
NG_051363.1:g.26266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88348G>T (TTN)	ENSP00000343764.6:p.Asp29450Tyr
ENST00000342175.11:c.69433G>T (TTN)	ENSP00000340554.6:p.Asp23145Tyr
ENST00000359218.10:c.69232G>T (TTN)	ENSP00000352154.5:p.Asp23078Tyr
ENST00000342175.10:c.69433G>T (TTN)	ENSP00000340554.6:p.Asp23145Tyr
ENST00000342992.10:c.88348G>T (TTN)	ENSP00000343764.6:p.Asp29450Tyr
ENST00000359218.9:c.69232G>T (TTN)	ENSP00000352154.5:p.Asp23078Tyr
ENST00000460472.6:c.68857G>T (TTN)	ENSP00000434586.1:p.Asp22953Tyr
ENST00000589042.5:c.96052G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp32018Tyr
ENST00000591111.5:c.91129G>T (TTN)	ENSP00000465570.1:p.Asp30377Tyr
ENST00000615779.4:c.91129G>T (TTN)	ENSP00000483597.1:p.Asp30377Tyr
NM_001256850.1:c.91129G>T (TTN)	NP_001243779.1:p.Asp30377Tyr
NM_001267550.2:c.96052G>T (TTN) MANE Select	NP_001254479.2:p.Asp32018Tyr
NM_003319.4:c.68857G>T (TTN)	NP_003310.4:p.Asp22953Tyr
NM_133378.4:c.88348G>T (TTN)	NP_596869.4:p.Asp29450Tyr
NM_133432.3:c.69232G>T (TTN)	NP_597676.3:p.Asp23078Tyr
NM_133437.4:c.69433G>T (TTN)	NP_597681.4:p.Asp23145Tyr
NR_038271.1:n.446+20456C>A (TTN-AS1)
NR_038272.1:n.2043+1731C>A (TTN-AS1)
XM_011511729.1:c.95149G>T (TTN)	XP_011510031.1:p.Asp31717Tyr
XM_011511730.1:c.69043G>T (TTN)	XP_011510032.1:p.Asp23015Tyr
XM_011511731.1:c.68902G>T (TTN)	XP_011510033.1:p.Asp22968Tyr
XM_017004819.1:c.94945G>T (TTN)	XP_016860308.1:p.Asp31649Tyr
XM_017004820.1:c.90343G>T (TTN)	XP_016860309.1:p.Asp30115Tyr
XM_017004821.1:c.90340G>T (TTN)	XP_016860310.1:p.Asp30114Tyr
XM_017004822.1:c.87382G>T (TTN)	XP_016860311.1:p.Asp29128Tyr
XM_017004823.1:c.68998G>T (TTN)	XP_016860312.1:p.Asp23000Tyr
XM_024453094.1:c.90493G>T (TTN)	XP_024308862.1:p.Asp30165Tyr
XM_024453095.1:c.90490G>T (TTN)	XP_024308863.1:p.Asp30164Tyr
XM_024453096.1:c.89923G>T (TTN)	XP_024308864.1:p.Asp29975Tyr
XM_024453097.1:c.87265G>T (TTN)	XP_024308865.1:p.Asp29089Tyr
XM_024453098.1:c.87184G>T (TTN)	XP_024308866.1:p.Asp29062Tyr
XM_024453099.1:c.68947G>T (TTN)	XP_024308867.1:p.Asp22983Tyr
XM_024453100.1:c.58801G>T (TTN)	XP_024308868.1:p.Asp19601Tyr