Canonical Allele Identifier: CA1985138

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs775097433
• ExAC: 2:179395069 C / G
• gnomAD v2: 2-179395069-C-G
• MyVariant Identifiers: chr2:g.179395069C>G (hg19) ; chr2:g.178530342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530342C>G , CM000664.2:g.178530342C>G	GRCh38
NC_000002.11:g.179395069C>G , CM000664.1:g.179395069C>G	GRCh37
NC_000002.10:g.179103315C>G	NCBI36
NG_011618.3:g.305461G>C , LRG_391:g.305461G>C
NG_051363.1:g.12516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98569G>C (TTN)	ENSP00000343764.6:p.Gly32857Arg
ENST00000342175.11:c.79654G>C (TTN)	ENSP00000340554.6:p.Gly26552Arg
ENST00000359218.10:c.79453G>C (TTN)	ENSP00000352154.5:p.Gly26485Arg
ENST00000342175.10:c.79654G>C (TTN)	ENSP00000340554.6:p.Gly26552Arg
ENST00000342992.10:c.98569G>C (TTN)	ENSP00000343764.6:p.Gly32857Arg
ENST00000359218.9:c.79453G>C (TTN)	ENSP00000352154.5:p.Gly26485Arg
ENST00000460472.6:c.79078G>C (TTN)	ENSP00000434586.1:p.Gly26360Arg
ENST00000589042.5:c.106273G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35425Arg
ENST00000591111.5:c.101350G>C (TTN)	ENSP00000465570.1:p.Gly33784Arg
ENST00000615779.4:c.101350G>C (TTN)	ENSP00000483597.1:p.Gly33784Arg
NM_001256850.1:c.101350G>C (TTN)	NP_001243779.1:p.Gly33784Arg
NM_001267550.2:c.106273G>C (TTN) MANE Select	NP_001254479.2:p.Gly35425Arg
NM_003319.4:c.79078G>C (TTN)	NP_003310.4:p.Gly26360Arg
NM_133378.4:c.98569G>C (TTN)	NP_596869.4:p.Gly32857Arg
NM_133432.3:c.79453G>C (TTN)	NP_597676.3:p.Gly26485Arg
NM_133437.4:c.79654G>C (TTN)	NP_597681.4:p.Gly26552Arg
NR_038271.1:n.446+6706C>G (TTN-AS1)
NR_038272.1:n.220-5390C>G (TTN-AS1)
XM_011511729.1:c.105370G>C (TTN)	XP_011510031.1:p.Gly35124Arg
XM_011511730.1:c.79264G>C (TTN)	XP_011510032.1:p.Gly26422Arg
XM_011511731.1:c.79123G>C (TTN)	XP_011510033.1:p.Gly26375Arg
XM_017004819.1:c.105166G>C (TTN)	XP_016860308.1:p.Gly35056Arg
XM_017004820.1:c.100564G>C (TTN)	XP_016860309.1:p.Gly33522Arg
XM_017004821.1:c.100561G>C (TTN)	XP_016860310.1:p.Gly33521Arg
XM_017004822.1:c.97603G>C (TTN)	XP_016860311.1:p.Gly32535Arg
XM_017004823.1:c.79219G>C (TTN)	XP_016860312.1:p.Gly26407Arg
XM_024453094.1:c.100714G>C (TTN)	XP_024308862.1:p.Gly33572Arg
XM_024453095.1:c.100711G>C (TTN)	XP_024308863.1:p.Gly33571Arg
XM_024453096.1:c.100144G>C (TTN)	XP_024308864.1:p.Gly33382Arg
XM_024453097.1:c.97486G>C (TTN)	XP_024308865.1:p.Gly32496Arg
XM_024453098.1:c.97405G>C (TTN)	XP_024308866.1:p.Gly32469Arg
XM_024453099.1:c.79168G>C (TTN)	XP_024308867.1:p.Gly26390Arg
XM_024453100.1:c.69022G>C (TTN)	XP_024308868.1:p.Gly23008Arg