Canonical Allele Identifier: CA349612376

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1707103269
• gnomAD v3: 2-178569006-T-G
• gnomAD v4: 2-178569006-T-G
• MyVariant Identifiers: chr2:g.179433733T>G (hg19) ; chr2:g.178569006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569006T>G , CM000664.2:g.178569006T>G	GRCh38
NC_000002.11:g.179433733T>G , CM000664.1:g.179433733T>G	GRCh37
NC_000002.10:g.179141979T>G	NCBI36
NG_011618.3:g.266797A>C , LRG_391:g.266797A>C
NG_051363.1:g.51180T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69422A>C (TTN)	ENSP00000343764.6:p.Asp23141Ala
ENST00000342175.11:c.50507A>C (TTN)	ENSP00000340554.6:p.Asp16836Ala
ENST00000359218.10:c.50306A>C (TTN)	ENSP00000352154.5:p.Asp16769Ala
ENST00000342175.10:c.50507A>C (TTN)	ENSP00000340554.6:p.Asp16836Ala
ENST00000342992.10:c.69422A>C (TTN)	ENSP00000343764.6:p.Asp23141Ala
ENST00000359218.9:c.50306A>C (TTN)	ENSP00000352154.5:p.Asp16769Ala
ENST00000460472.6:c.49931A>C (TTN)	ENSP00000434586.1:p.Asp16644Ala
ENST00000589042.5:c.77126A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp25709Ala
ENST00000591111.5:c.72203A>C (TTN)	ENSP00000465570.1:p.Asp24068Ala
ENST00000615779.4:c.72203A>C (TTN)	ENSP00000483597.1:p.Asp24068Ala
NM_001256850.1:c.72203A>C (TTN)	NP_001243779.1:p.Asp24068Ala
NM_001267550.2:c.77126A>C (TTN) MANE Select	NP_001254479.2:p.Asp25709Ala
NM_003319.4:c.49931A>C (TTN)	NP_003310.4:p.Asp16644Ala
NM_133378.4:c.69422A>C (TTN)	NP_596869.4:p.Asp23141Ala
NM_133432.3:c.50306A>C (TTN)	NP_597676.3:p.Asp16769Ala
NM_133437.4:c.50507A>C (TTN)	NP_597681.4:p.Asp16836Ala
NR_038271.1:n.447-2294T>G (TTN-AS1)
NR_038272.1:n.2044-13566T>G (TTN-AS1)
XM_011511729.1:c.76223A>C (TTN)	XP_011510031.1:p.Asp25408Ala
XM_011511730.1:c.50117A>C (TTN)	XP_011510032.1:p.Asp16706Ala
XM_011511731.1:c.49976A>C (TTN)	XP_011510033.1:p.Asp16659Ala
XM_017004819.1:c.76019A>C (TTN)	XP_016860308.1:p.Asp25340Ala
XM_017004820.1:c.71417A>C (TTN)	XP_016860309.1:p.Asp23806Ala
XM_017004821.1:c.71414A>C (TTN)	XP_016860310.1:p.Asp23805Ala
XM_017004822.1:c.68456A>C (TTN)	XP_016860311.1:p.Asp22819Ala
XM_017004823.1:c.50072A>C (TTN)	XP_016860312.1:p.Asp16691Ala
XM_024453094.1:c.71567A>C (TTN)	XP_024308862.1:p.Asp23856Ala
XM_024453095.1:c.71564A>C (TTN)	XP_024308863.1:p.Asp23855Ala
XM_024453096.1:c.70997A>C (TTN)	XP_024308864.1:p.Asp23666Ala
XM_024453097.1:c.68339A>C (TTN)	XP_024308865.1:p.Asp22780Ala
XM_024453098.1:c.68258A>C (TTN)	XP_024308866.1:p.Asp22753Ala
XM_024453099.1:c.50021A>C (TTN)	XP_024308867.1:p.Asp16674Ala
XM_024453100.1:c.39875A>C (TTN)	XP_024308868.1:p.Asp13292Ala