Canonical Allele Identifier: CA349618094

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618046-C-G
• MyVariant Identifiers: chr2:g.179482773C>G (hg19) ; chr2:g.178618046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618046C>G , CM000664.2:g.178618046C>G	GRCh38
NC_000002.11:g.179482773C>G , CM000664.1:g.179482773C>G	GRCh37
NC_000002.10:g.179191018C>G	NCBI36
NG_011618.3:g.217757G>C , LRG_391:g.217757G>C
NG_051363.1:g.100220C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39601G>C (TTN)	ENSP00000343764.6:p.Asp13201His
ENST00000342175.11:c.20686G>C (TTN)	ENSP00000340554.6:p.Asp6896His
ENST00000359218.10:c.20485G>C (TTN)	ENSP00000352154.5:p.Asp6829His
ENST00000342175.10:c.20686G>C (TTN)	ENSP00000340554.6:p.Asp6896His
ENST00000342992.10:c.39601G>C (TTN)	ENSP00000343764.6:p.Asp13201His
ENST00000359218.9:c.20485G>C (TTN)	ENSP00000352154.5:p.Asp6829His
ENST00000460472.6:c.20110G>C (TTN)	ENSP00000434586.1:p.Asp6704His
ENST00000589042.5:c.47305G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp15769His
ENST00000591111.5:c.42382G>C (TTN)	ENSP00000465570.1:p.Asp14128His
ENST00000615779.4:c.42382G>C (TTN)	ENSP00000483597.1:p.Asp14128His
NM_001256850.1:c.42382G>C (TTN)	NP_001243779.1:p.Asp14128His
NM_001267550.2:c.47305G>C (TTN) MANE Select	NP_001254479.2:p.Asp15769His
NM_003319.4:c.20110G>C (TTN)	NP_003310.4:p.Asp6704His
NM_133378.4:c.39601G>C (TTN)	NP_596869.4:p.Asp13201His
NM_133432.3:c.20485G>C (TTN)	NP_597676.3:p.Asp6829His
NM_133437.4:c.20686G>C (TTN)	NP_597681.4:p.Asp6896His
NR_038271.1:n.1605-1707C>G (TTN-AS1)
XM_011511729.1:c.46402G>C (TTN)	XP_011510031.1:p.Asp15468His
XM_011511730.1:c.20296G>C (TTN)	XP_011510032.1:p.Asp6766His
XM_011511731.1:c.20155G>C (TTN)	XP_011510033.1:p.Asp6719His
XM_017004819.1:c.46198G>C (TTN)	XP_016860308.1:p.Asp15400His
XM_017004820.1:c.41596G>C (TTN)	XP_016860309.1:p.Asp13866His
XM_017004821.1:c.41593G>C (TTN)	XP_016860310.1:p.Asp13865His
XM_017004822.1:c.38635G>C (TTN)	XP_016860311.1:p.Asp12879His
XM_017004823.1:c.20251G>C (TTN)	XP_016860312.1:p.Asp6751His
XM_024453094.1:c.41746G>C (TTN)	XP_024308862.1:p.Asp13916His
XM_024453095.1:c.41743G>C (TTN)	XP_024308863.1:p.Asp13915His
XM_024453096.1:c.41176G>C (TTN)	XP_024308864.1:p.Asp13726His
XM_024453097.1:c.38518G>C (TTN)	XP_024308865.1:p.Asp12840His
XM_024453098.1:c.38437G>C (TTN)	XP_024308866.1:p.Asp12813His
XM_024453099.1:c.20200G>C (TTN)	XP_024308867.1:p.Asp6734His
XM_024453100.1:c.10054G>C (TTN)	XP_024308868.1:p.Asp3352His