Canonical Allele Identifier: CA349471220

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1697332587
• gnomAD v4: 2-178546732-C-G
• MyVariant Identifiers: chr2:g.179411459C>G (hg19) ; chr2:g.178546732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546732C>G , CM000664.2:g.178546732C>G	GRCh38
NC_000002.11:g.179411459C>G , CM000664.1:g.179411459C>G	GRCh37
NC_000002.10:g.179119705C>G	NCBI36
NG_011618.3:g.289071G>C , LRG_391:g.289071G>C
NG_051363.1:g.28906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86992G>C (TTN)	ENSP00000343764.6:p.Asp28998His
ENST00000342175.11:c.68077G>C (TTN)	ENSP00000340554.6:p.Asp22693His
ENST00000359218.10:c.67876G>C (TTN)	ENSP00000352154.5:p.Asp22626His
ENST00000342175.10:c.68077G>C (TTN)	ENSP00000340554.6:p.Asp22693His
ENST00000342992.10:c.86992G>C (TTN)	ENSP00000343764.6:p.Asp28998His
ENST00000359218.9:c.67876G>C (TTN)	ENSP00000352154.5:p.Asp22626His
ENST00000460472.6:c.67501G>C (TTN)	ENSP00000434586.1:p.Asp22501His
ENST00000589042.5:c.94696G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp31566His
ENST00000591111.5:c.89773G>C (TTN)	ENSP00000465570.1:p.Asp29925His
ENST00000615779.4:c.89773G>C (TTN)	ENSP00000483597.1:p.Asp29925His
NM_001256850.1:c.89773G>C (TTN)	NP_001243779.1:p.Asp29925His
NM_001267550.2:c.94696G>C (TTN) MANE Select	NP_001254479.2:p.Asp31566His
NM_003319.4:c.67501G>C (TTN)	NP_003310.4:p.Asp22501His
NM_133378.4:c.86992G>C (TTN)	NP_596869.4:p.Asp28998His
NM_133432.3:c.67876G>C (TTN)	NP_597676.3:p.Asp22626His
NM_133437.4:c.68077G>C (TTN)	NP_597681.4:p.Asp22693His
NR_038271.1:n.446+23096C>G (TTN-AS1)
NR_038272.1:n.2043+4371C>G (TTN-AS1)
XM_011511729.1:c.93793G>C (TTN)	XP_011510031.1:p.Asp31265His
XM_011511730.1:c.67687G>C (TTN)	XP_011510032.1:p.Asp22563His
XM_011511731.1:c.67546G>C (TTN)	XP_011510033.1:p.Asp22516His
XM_017004819.1:c.93589G>C (TTN)	XP_016860308.1:p.Asp31197His
XM_017004820.1:c.88987G>C (TTN)	XP_016860309.1:p.Asp29663His
XM_017004821.1:c.88984G>C (TTN)	XP_016860310.1:p.Asp29662His
XM_017004822.1:c.86026G>C (TTN)	XP_016860311.1:p.Asp28676His
XM_017004823.1:c.67642G>C (TTN)	XP_016860312.1:p.Asp22548His
XM_024453094.1:c.89137G>C (TTN)	XP_024308862.1:p.Asp29713His
XM_024453095.1:c.89134G>C (TTN)	XP_024308863.1:p.Asp29712His
XM_024453096.1:c.88567G>C (TTN)	XP_024308864.1:p.Asp29523His
XM_024453097.1:c.85909G>C (TTN)	XP_024308865.1:p.Asp28637His
XM_024453098.1:c.85828G>C (TTN)	XP_024308866.1:p.Asp28610His
XM_024453099.1:c.67591G>C (TTN)	XP_024308867.1:p.Asp22531His
XM_024453100.1:c.57445G>C (TTN)	XP_024308868.1:p.Asp19149His