Canonical Allele Identifier: CA349545250

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2053671258
• gnomAD v3: 2-178602339-C-G
• gnomAD v4: 2-178602339-C-G
• MyVariant Identifiers: chr2:g.179467066C>G (hg19) ; chr2:g.178602339C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602339C>G , CM000664.2:g.178602339C>G	GRCh38
NC_000002.11:g.179467066C>G , CM000664.1:g.179467066C>G	GRCh37
NC_000002.10:g.179175311C>G	NCBI36
NG_011618.3:g.233464G>C , LRG_391:g.233464G>C
NG_051363.1:g.84513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47359G>C (TTN)	ENSP00000343764.6:p.Ala15787Pro
ENST00000342175.11:c.28444G>C (TTN)	ENSP00000340554.6:p.Ala9482Pro
ENST00000359218.10:c.28243G>C (TTN)	ENSP00000352154.5:p.Ala9415Pro
ENST00000342175.10:c.28444G>C (TTN)	ENSP00000340554.6:p.Ala9482Pro
ENST00000342992.10:c.47359G>C (TTN)	ENSP00000343764.6:p.Ala15787Pro
ENST00000359218.9:c.28243G>C (TTN)	ENSP00000352154.5:p.Ala9415Pro
ENST00000460472.6:c.27868G>C (TTN)	ENSP00000434586.1:p.Ala9290Pro
ENST00000589042.5:c.55063G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala18355Pro
ENST00000591111.5:c.50140G>C (TTN)	ENSP00000465570.1:p.Ala16714Pro
ENST00000615779.4:c.50140G>C (TTN)	ENSP00000483597.1:p.Ala16714Pro
NM_001256850.1:c.50140G>C (TTN)	NP_001243779.1:p.Ala16714Pro
NM_001267550.2:c.55063G>C (TTN) MANE Select	NP_001254479.2:p.Ala18355Pro
NM_003319.4:c.27868G>C (TTN)	NP_003310.4:p.Ala9290Pro
NM_133378.4:c.47359G>C (TTN)	NP_596869.4:p.Ala15787Pro
NM_133432.3:c.28243G>C (TTN)	NP_597676.3:p.Ala9415Pro
NM_133437.4:c.28444G>C (TTN)	NP_597681.4:p.Ala9482Pro
NR_038271.1:n.682+4658C>G (TTN-AS1)
NR_038272.1:n.3917+1672C>G (TTN-AS1)
XM_011511729.1:c.54160G>C (TTN)	XP_011510031.1:p.Ala18054Pro
XM_011511730.1:c.28054G>C (TTN)	XP_011510032.1:p.Ala9352Pro
XM_011511731.1:c.27913G>C (TTN)	XP_011510033.1:p.Ala9305Pro
XM_017004819.1:c.53956G>C (TTN)	XP_016860308.1:p.Ala17986Pro
XM_017004820.1:c.49354G>C (TTN)	XP_016860309.1:p.Ala16452Pro
XM_017004821.1:c.49351G>C (TTN)	XP_016860310.1:p.Ala16451Pro
XM_017004822.1:c.46393G>C (TTN)	XP_016860311.1:p.Ala15465Pro
XM_017004823.1:c.28009G>C (TTN)	XP_016860312.1:p.Ala9337Pro
XM_024453094.1:c.49504G>C (TTN)	XP_024308862.1:p.Ala16502Pro
XM_024453095.1:c.49501G>C (TTN)	XP_024308863.1:p.Ala16501Pro
XM_024453096.1:c.48934G>C (TTN)	XP_024308864.1:p.Ala16312Pro
XM_024453097.1:c.46276G>C (TTN)	XP_024308865.1:p.Ala15426Pro
XM_024453098.1:c.46195G>C (TTN)	XP_024308866.1:p.Ala15399Pro
XM_024453099.1:c.27958G>C (TTN)	XP_024308867.1:p.Ala9320Pro
XM_024453100.1:c.17812G>C (TTN)	XP_024308868.1:p.Ala5938Pro