Canonical Allele Identifier: CA60974967

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs756685124
• gnomAD v4: 2-178549858-T-C
• MyVariant Identifiers: chr2:g.179414585T>C (hg19) ; chr2:g.178549858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549858T>C , CM000664.2:g.178549858T>C	GRCh38
NC_000002.11:g.179414585T>C , CM000664.1:g.179414585T>C	GRCh37
NC_000002.10:g.179122831T>C	NCBI36
NG_011618.3:g.285945A>G , LRG_391:g.285945A>G
NG_051363.1:g.32032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84160A>G (TTN)	ENSP00000343764.6:p.Lys28054Glu
ENST00000342175.11:c.65245A>G (TTN)	ENSP00000340554.6:p.Lys21749Glu
ENST00000359218.10:c.65044A>G (TTN)	ENSP00000352154.5:p.Lys21682Glu
ENST00000342175.10:c.65245A>G (TTN)	ENSP00000340554.6:p.Lys21749Glu
ENST00000342992.10:c.84160A>G (TTN)	ENSP00000343764.6:p.Lys28054Glu
ENST00000359218.9:c.65044A>G (TTN)	ENSP00000352154.5:p.Lys21682Glu
ENST00000460472.6:c.64669A>G (TTN)	ENSP00000434586.1:p.Lys21557Glu
ENST00000589042.5:c.91864A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys30622Glu
ENST00000591111.5:c.86941A>G (TTN)	ENSP00000465570.1:p.Lys28981Glu
ENST00000615779.4:c.86941A>G (TTN)	ENSP00000483597.1:p.Lys28981Glu
NM_001256850.1:c.86941A>G (TTN)	NP_001243779.1:p.Lys28981Glu
NM_001267550.2:c.91864A>G (TTN) MANE Select	NP_001254479.2:p.Lys30622Glu
NM_003319.4:c.64669A>G (TTN)	NP_003310.4:p.Lys21557Glu
NM_133378.4:c.84160A>G (TTN)	NP_596869.4:p.Lys28054Glu
NM_133432.3:c.65044A>G (TTN)	NP_597676.3:p.Lys21682Glu
NM_133437.4:c.65245A>G (TTN)	NP_597681.4:p.Lys21749Glu
NR_038271.1:n.447-21442T>C (TTN-AS1)
NR_038272.1:n.2043+7497T>C (TTN-AS1)
XM_011511729.1:c.90961A>G (TTN)	XP_011510031.1:p.Lys30321Glu
XM_011511730.1:c.64855A>G (TTN)	XP_011510032.1:p.Lys21619Glu
XM_011511731.1:c.64714A>G (TTN)	XP_011510033.1:p.Lys21572Glu
XM_017004819.1:c.90757A>G (TTN)	XP_016860308.1:p.Lys30253Glu
XM_017004820.1:c.86155A>G (TTN)	XP_016860309.1:p.Lys28719Glu
XM_017004821.1:c.86152A>G (TTN)	XP_016860310.1:p.Lys28718Glu
XM_017004822.1:c.83194A>G (TTN)	XP_016860311.1:p.Lys27732Glu
XM_017004823.1:c.64810A>G (TTN)	XP_016860312.1:p.Lys21604Glu
XM_024453094.1:c.86305A>G (TTN)	XP_024308862.1:p.Lys28769Glu
XM_024453095.1:c.86302A>G (TTN)	XP_024308863.1:p.Lys28768Glu
XM_024453096.1:c.85735A>G (TTN)	XP_024308864.1:p.Lys28579Glu
XM_024453097.1:c.83077A>G (TTN)	XP_024308865.1:p.Lys27693Glu
XM_024453098.1:c.82996A>G (TTN)	XP_024308866.1:p.Lys27666Glu
XM_024453099.1:c.64759A>G (TTN)	XP_024308867.1:p.Lys21587Glu
XM_024453100.1:c.54613A>G (TTN)	XP_024308868.1:p.Lys18205Glu