Canonical Allele Identifier: CA349436114

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1386324100
• gnomAD v4: 2-178584686-A-G
• MyVariant Identifiers: chr2:g.179449413A>G (hg19) ; chr2:g.178584686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584686A>G , CM000664.2:g.178584686A>G	GRCh38
NC_000002.11:g.179449413A>G , CM000664.1:g.179449413A>G	GRCh37
NC_000002.10:g.179157659A>G	NCBI36
NG_011618.3:g.251117T>C , LRG_391:g.251117T>C
NG_051363.1:g.66860A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57251T>C (TTN)	ENSP00000343764.6:p.Val19084Ala
ENST00000342175.11:c.38336T>C (TTN)	ENSP00000340554.6:p.Val12779Ala
ENST00000359218.10:c.38135T>C (TTN)	ENSP00000352154.5:p.Val12712Ala
ENST00000342175.10:c.38336T>C (TTN)	ENSP00000340554.6:p.Val12779Ala
ENST00000342992.10:c.57251T>C (TTN)	ENSP00000343764.6:p.Val19084Ala
ENST00000359218.9:c.38135T>C (TTN)	ENSP00000352154.5:p.Val12712Ala
ENST00000460472.6:c.37760T>C (TTN)	ENSP00000434586.1:p.Val12587Ala
ENST00000589042.5:c.64955T>C (TTN) MANE Select	ENSP00000467141.1:p.Val21652Ala
ENST00000591111.5:c.60032T>C (TTN)	ENSP00000465570.1:p.Val20011Ala
ENST00000615779.4:c.60032T>C (TTN)	ENSP00000483597.1:p.Val20011Ala
NM_001256850.1:c.60032T>C (TTN)	NP_001243779.1:p.Val20011Ala
NM_001267550.2:c.64955T>C (TTN) MANE Select	NP_001254479.2:p.Val21652Ala
NM_003319.4:c.37760T>C (TTN)	NP_003310.4:p.Val12587Ala
NM_133378.4:c.57251T>C (TTN)	NP_596869.4:p.Val19084Ala
NM_133432.3:c.38135T>C (TTN)	NP_597676.3:p.Val12712Ala
NM_133437.4:c.38336T>C (TTN)	NP_597681.4:p.Val12779Ala
NR_038271.1:n.597-12910A>G (TTN-AS1)
NR_038272.1:n.2881A>G (TTN-AS1)
XM_011511729.1:c.64052T>C (TTN)	XP_011510031.1:p.Val21351Ala
XM_011511730.1:c.37946T>C (TTN)	XP_011510032.1:p.Val12649Ala
XM_011511731.1:c.37805T>C (TTN)	XP_011510033.1:p.Val12602Ala
XM_017004819.1:c.63848T>C (TTN)	XP_016860308.1:p.Val21283Ala
XM_017004820.1:c.59246T>C (TTN)	XP_016860309.1:p.Val19749Ala
XM_017004821.1:c.59243T>C (TTN)	XP_016860310.1:p.Val19748Ala
XM_017004822.1:c.56285T>C (TTN)	XP_016860311.1:p.Val18762Ala
XM_017004823.1:c.37901T>C (TTN)	XP_016860312.1:p.Val12634Ala
XM_024453094.1:c.59396T>C (TTN)	XP_024308862.1:p.Val19799Ala
XM_024453095.1:c.59393T>C (TTN)	XP_024308863.1:p.Val19798Ala
XM_024453096.1:c.58826T>C (TTN)	XP_024308864.1:p.Val19609Ala
XM_024453097.1:c.56168T>C (TTN)	XP_024308865.1:p.Val18723Ala
XM_024453098.1:c.56087T>C (TTN)	XP_024308866.1:p.Val18696Ala
XM_024453099.1:c.37850T>C (TTN)	XP_024308867.1:p.Val12617Ala
XM_024453100.1:c.27704T>C (TTN)	XP_024308868.1:p.Val9235Ala