Canonical Allele Identifier: CA1986772

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs759804421
• ExAC: 2:179408526 C / G
• gnomAD v2: 2-179408526-C-G
• gnomAD v3: 2-178543799-C-G
• gnomAD v4: 2-178543799-C-G
• MyVariant Identifiers: chr2:g.179408526C>G (hg19) ; chr2:g.178543799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543799C>G , CM000664.2:g.178543799C>G	GRCh38
NC_000002.11:g.179408526C>G , CM000664.1:g.179408526C>G	GRCh37
NC_000002.10:g.179116772C>G	NCBI36
NG_011618.3:g.292004G>C , LRG_391:g.292004G>C
NG_051363.1:g.25973C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88606+35G>C (TTN)	ENSP00000343764.6:n.88606+35G>C
ENST00000342175.11:c.69691+35G>C (TTN)	ENSP00000340554.6:n.69691+35G>C
ENST00000359218.10:c.69490+35G>C (TTN)	ENSP00000352154.5:n.69490+35G>C
ENST00000342175.10:c.69691+35G>C (TTN)	ENSP00000340554.6:n.69691+35G>C
ENST00000342992.10:c.88606+35G>C (TTN)	ENSP00000343764.6:n.88606+35G>C
ENST00000359218.9:c.69490+35G>C (TTN)	ENSP00000352154.5:n.69490+35G>C
ENST00000460472.6:c.69115+35G>C (TTN)	ENSP00000434586.1:n.69115+35G>C
ENST00000589042.5:c.96310+35G>C (TTN) MANE Select	ENSP00000467141.1:n.96310+35G>C
ENST00000591111.5:c.91387+35G>C (TTN)	ENSP00000465570.1:n.91387+35G>C
ENST00000615779.4:c.91387+35G>C (TTN)	ENSP00000483597.1:n.91387+35G>C
NM_001256850.1:c.91387+35G>C (TTN)	NP_001243779.1:n.91387+35G>C
NM_001267550.2:c.96310+35G>C (TTN) MANE Select	NP_001254479.2:n.96310+35G>C
NM_003319.4:c.69115+35G>C (TTN)	NP_003310.4:n.69115+35G>C
NM_133378.4:c.88606+35G>C (TTN)	NP_596869.4:n.88606+35G>C
NM_133432.3:c.69490+35G>C (TTN)	NP_597676.3:n.69490+35G>C
NM_133437.4:c.69691+35G>C (TTN)	NP_597681.4:n.69691+35G>C
NR_038271.1:n.446+20163C>G (TTN-AS1)
NR_038272.1:n.2043+1438C>G (TTN-AS1)
XM_011511729.1:c.95407+35G>C (TTN)	XP_011510031.1:n.95407+35G>C
XM_011511730.1:c.69301+35G>C (TTN)	XP_011510032.1:n.69301+35G>C
XM_011511731.1:c.69160+35G>C (TTN)	XP_011510033.1:n.69160+35G>C
XM_017004819.1:c.95203+35G>C (TTN)	XP_016860308.1:n.95203+35G>C
XM_017004820.1:c.90601+35G>C (TTN)	XP_016860309.1:n.90601+35G>C
XM_017004821.1:c.90598+35G>C (TTN)	XP_016860310.1:n.90598+35G>C
XM_017004822.1:c.87640+35G>C (TTN)	XP_016860311.1:n.87640+35G>C
XM_017004823.1:c.69256+35G>C (TTN)	XP_016860312.1:n.69256+35G>C
XM_024453094.1:c.90751+35G>C (TTN)	XP_024308862.1:n.90751+35G>C
XM_024453095.1:c.90748+35G>C (TTN)	XP_024308863.1:n.90748+35G>C
XM_024453096.1:c.90181+35G>C (TTN)	XP_024308864.1:n.90181+35G>C
XM_024453097.1:c.87523+35G>C (TTN)	XP_024308865.1:n.87523+35G>C
XM_024453098.1:c.87442+35G>C (TTN)	XP_024308866.1:n.87442+35G>C
XM_024453099.1:c.69205+35G>C (TTN)	XP_024308867.1:n.69205+35G>C
XM_024453100.1:c.59059+35G>C (TTN)	XP_024308868.1:n.59059+35G>C