Canonical Allele Identifier: CA349604648

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178613870-C-G
• MyVariant Identifiers: chr2:g.179478597C>G (hg19) ; chr2:g.178613870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613870C>G , CM000664.2:g.178613870C>G	GRCh38
NC_000002.11:g.179478597C>G , CM000664.1:g.179478597C>G	GRCh37
NC_000002.10:g.179186842C>G	NCBI36
NG_011618.3:g.221933G>C , LRG_391:g.221933G>C
NG_051363.1:g.96044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41709G>C (TTN)	ENSP00000343764.6:p.Trp13903Cys
ENST00000342175.11:c.22794G>C (TTN)	ENSP00000340554.6:p.Trp7598Cys
ENST00000359218.10:c.22593G>C (TTN)	ENSP00000352154.5:p.Trp7531Cys
ENST00000342175.10:c.22794G>C (TTN)	ENSP00000340554.6:p.Trp7598Cys
ENST00000342992.10:c.41709G>C (TTN)	ENSP00000343764.6:p.Trp13903Cys
ENST00000359218.9:c.22593G>C (TTN)	ENSP00000352154.5:p.Trp7531Cys
ENST00000460472.6:c.22218G>C (TTN)	ENSP00000434586.1:p.Trp7406Cys
ENST00000589042.5:c.49413G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp16471Cys
ENST00000591111.5:c.44490G>C (TTN)	ENSP00000465570.1:p.Trp14830Cys
ENST00000615779.4:c.44490G>C (TTN)	ENSP00000483597.1:p.Trp14830Cys
NM_001256850.1:c.44490G>C (TTN)	NP_001243779.1:p.Trp14830Cys
NM_001267550.2:c.49413G>C (TTN) MANE Select	NP_001254479.2:p.Trp16471Cys
NM_003319.4:c.22218G>C (TTN)	NP_003310.4:p.Trp7406Cys
NM_133378.4:c.41709G>C (TTN)	NP_596869.4:p.Trp13903Cys
NM_133432.3:c.22593G>C (TTN)	NP_597676.3:p.Trp7531Cys
NM_133437.4:c.22794G>C (TTN)	NP_597681.4:p.Trp7598Cys
NR_038271.1:n.783-165C>G (TTN-AS1)
XM_011511729.1:c.48510G>C (TTN)	XP_011510031.1:p.Trp16170Cys
XM_011511730.1:c.22404G>C (TTN)	XP_011510032.1:p.Trp7468Cys
XM_011511731.1:c.22263G>C (TTN)	XP_011510033.1:p.Trp7421Cys
XM_017004819.1:c.48306G>C (TTN)	XP_016860308.1:p.Trp16102Cys
XM_017004820.1:c.43704G>C (TTN)	XP_016860309.1:p.Trp14568Cys
XM_017004821.1:c.43701G>C (TTN)	XP_016860310.1:p.Trp14567Cys
XM_017004822.1:c.40743G>C (TTN)	XP_016860311.1:p.Trp13581Cys
XM_017004823.1:c.22359G>C (TTN)	XP_016860312.1:p.Trp7453Cys
XM_024453094.1:c.43854G>C (TTN)	XP_024308862.1:p.Trp14618Cys
XM_024453095.1:c.43851G>C (TTN)	XP_024308863.1:p.Trp14617Cys
XM_024453096.1:c.43284G>C (TTN)	XP_024308864.1:p.Trp14428Cys
XM_024453097.1:c.40626G>C (TTN)	XP_024308865.1:p.Trp13542Cys
XM_024453098.1:c.40545G>C (TTN)	XP_024308866.1:p.Trp13515Cys
XM_024453099.1:c.22308G>C (TTN)	XP_024308867.1:p.Trp7436Cys
XM_024453100.1:c.12162G>C (TTN)	XP_024308868.1:p.Trp4054Cys