Canonical Allele Identifier: CA349407213

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1688685029
• gnomAD v3: 2-178530599-T-C
• gnomAD v4: 2-178530599-T-C
• MyVariant Identifiers: chr2:g.179395326T>C (hg19) ; chr2:g.178530599T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530599T>C , CM000664.2:g.178530599T>C	GRCh38
NC_000002.11:g.179395326T>C , CM000664.1:g.179395326T>C	GRCh37
NC_000002.10:g.179103572T>C	NCBI36
NG_011618.3:g.305204A>G , LRG_391:g.305204A>G
NG_051363.1:g.12773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98312A>G (TTN)	ENSP00000343764.6:p.Asp32771Gly
ENST00000342175.11:c.79397A>G (TTN)	ENSP00000340554.6:p.Asp26466Gly
ENST00000359218.10:c.79196A>G (TTN)	ENSP00000352154.5:p.Asp26399Gly
ENST00000342175.10:c.79397A>G (TTN)	ENSP00000340554.6:p.Asp26466Gly
ENST00000342992.10:c.98312A>G (TTN)	ENSP00000343764.6:p.Asp32771Gly
ENST00000359218.9:c.79196A>G (TTN)	ENSP00000352154.5:p.Asp26399Gly
ENST00000460472.6:c.78821A>G (TTN)	ENSP00000434586.1:p.Asp26274Gly
ENST00000589042.5:c.106016A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp35339Gly
ENST00000591111.5:c.101093A>G (TTN)	ENSP00000465570.1:p.Asp33698Gly
ENST00000615779.4:c.101093A>G (TTN)	ENSP00000483597.1:p.Asp33698Gly
NM_001256850.1:c.101093A>G (TTN)	NP_001243779.1:p.Asp33698Gly
NM_001267550.2:c.106016A>G (TTN) MANE Select	NP_001254479.2:p.Asp35339Gly
NM_003319.4:c.78821A>G (TTN)	NP_003310.4:p.Asp26274Gly
NM_133378.4:c.98312A>G (TTN)	NP_596869.4:p.Asp32771Gly
NM_133432.3:c.79196A>G (TTN)	NP_597676.3:p.Asp26399Gly
NM_133437.4:c.79397A>G (TTN)	NP_597681.4:p.Asp26466Gly
NR_038271.1:n.446+6963T>C (TTN-AS1)
NR_038272.1:n.220-5133T>C (TTN-AS1)
XM_011511729.1:c.105113A>G (TTN)	XP_011510031.1:p.Asp35038Gly
XM_011511730.1:c.79007A>G (TTN)	XP_011510032.1:p.Asp26336Gly
XM_011511731.1:c.78866A>G (TTN)	XP_011510033.1:p.Asp26289Gly
XM_017004819.1:c.104909A>G (TTN)	XP_016860308.1:p.Asp34970Gly
XM_017004820.1:c.100307A>G (TTN)	XP_016860309.1:p.Asp33436Gly
XM_017004821.1:c.100304A>G (TTN)	XP_016860310.1:p.Asp33435Gly
XM_017004822.1:c.97346A>G (TTN)	XP_016860311.1:p.Asp32449Gly
XM_017004823.1:c.78962A>G (TTN)	XP_016860312.1:p.Asp26321Gly
XM_024453094.1:c.100457A>G (TTN)	XP_024308862.1:p.Asp33486Gly
XM_024453095.1:c.100454A>G (TTN)	XP_024308863.1:p.Asp33485Gly
XM_024453096.1:c.99887A>G (TTN)	XP_024308864.1:p.Asp33296Gly
XM_024453097.1:c.97229A>G (TTN)	XP_024308865.1:p.Asp32410Gly
XM_024453098.1:c.97148A>G (TTN)	XP_024308866.1:p.Asp32383Gly
XM_024453099.1:c.78911A>G (TTN)	XP_024308867.1:p.Asp26304Gly
XM_024453100.1:c.68765A>G (TTN)	XP_024308868.1:p.Asp22922Gly