Canonical Allele Identifier: CA349398171

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178527030-T-C
• MyVariant Identifiers: chr2:g.179391757T>C (hg19) ; chr2:g.178527030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527030T>C , CM000664.2:g.178527030T>C	GRCh38
NC_000002.11:g.179391757T>C , CM000664.1:g.179391757T>C	GRCh37
NC_000002.10:g.179100003T>C	NCBI36
NG_011618.3:g.308773A>G , LRG_391:g.308773A>G
NG_051363.1:g.9204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100254A>G (TTN)	ENSP00000343764.6:p.Ile33418Met
ENST00000342175.11:c.81339A>G (TTN)	ENSP00000340554.6:p.Ile27113Met
ENST00000359218.10:c.81138A>G (TTN)	ENSP00000352154.5:p.Ile27046Met
ENST00000342175.10:c.81339A>G (TTN)	ENSP00000340554.6:p.Ile27113Met
ENST00000342992.10:c.100254A>G (TTN)	ENSP00000343764.6:p.Ile33418Met
ENST00000359218.9:c.81138A>G (TTN)	ENSP00000352154.5:p.Ile27046Met
ENST00000460472.6:c.80763A>G (TTN)	ENSP00000434586.1:p.Ile26921Met
ENST00000589042.5:c.107958A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35986Met
ENST00000591111.5:c.103035A>G (TTN)	ENSP00000465570.1:p.Ile34345Met
ENST00000615779.4:c.103035A>G (TTN)	ENSP00000483597.1:p.Ile34345Met
NM_001256850.1:c.103035A>G (TTN)	NP_001243779.1:p.Ile34345Met
NM_001267550.2:c.107958A>G (TTN) MANE Select	NP_001254479.2:p.Ile35986Met
NM_003319.4:c.80763A>G (TTN)	NP_003310.4:p.Ile26921Met
NM_133378.4:c.100254A>G (TTN)	NP_596869.4:p.Ile33418Met
NM_133432.3:c.81138A>G (TTN)	NP_597676.3:p.Ile27046Met
NM_133437.4:c.81339A>G (TTN)	NP_597681.4:p.Ile27113Met
NR_038271.1:n.446+3394T>C (TTN-AS1)
NR_038272.1:n.219+3394T>C (TTN-AS1)
XM_011511729.1:c.107055A>G (TTN)	XP_011510031.1:p.Ile35685Met
XM_011511730.1:c.80949A>G (TTN)	XP_011510032.1:p.Ile26983Met
XM_011511731.1:c.80808A>G (TTN)	XP_011510033.1:p.Ile26936Met
XM_017004819.1:c.106851A>G (TTN)	XP_016860308.1:p.Ile35617Met
XM_017004820.1:c.102249A>G (TTN)	XP_016860309.1:p.Ile34083Met
XM_017004821.1:c.102246A>G (TTN)	XP_016860310.1:p.Ile34082Met
XM_017004822.1:c.99288A>G (TTN)	XP_016860311.1:p.Ile33096Met
XM_017004823.1:c.80904A>G (TTN)	XP_016860312.1:p.Ile26968Met
XM_024453094.1:c.102399A>G (TTN)	XP_024308862.1:p.Ile34133Met
XM_024453095.1:c.102396A>G (TTN)	XP_024308863.1:p.Ile34132Met
XM_024453096.1:c.101829A>G (TTN)	XP_024308864.1:p.Ile33943Met
XM_024453097.1:c.99171A>G (TTN)	XP_024308865.1:p.Ile33057Met
XM_024453098.1:c.99090A>G (TTN)	XP_024308866.1:p.Ile33030Met
XM_024453099.1:c.80853A>G (TTN)	XP_024308867.1:p.Ile26951Met
XM_024453100.1:c.70707A>G (TTN)	XP_024308868.1:p.Ile23569Met