Canonical Allele Identifier: CA60956233

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs973111888
• gnomAD v3: 2-178532195-C-G
• gnomAD v4: 2-178532195-C-G
• MyVariant Identifiers: chr2:g.179396922C>G (hg19) ; chr2:g.178532195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532195C>G , CM000664.2:g.178532195C>G	GRCh38
NC_000002.11:g.179396922C>G , CM000664.1:g.179396922C>G	GRCh37
NC_000002.10:g.179105168C>G	NCBI36
NG_011618.3:g.303608G>C , LRG_391:g.303608G>C
NG_051363.1:g.14369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96716G>C (TTN)	ENSP00000343764.6:p.Arg32239Thr
ENST00000342175.11:c.77801G>C (TTN)	ENSP00000340554.6:p.Arg25934Thr
ENST00000359218.10:c.77600G>C (TTN)	ENSP00000352154.5:p.Arg25867Thr
ENST00000342175.10:c.77801G>C (TTN)	ENSP00000340554.6:p.Arg25934Thr
ENST00000342992.10:c.96716G>C (TTN)	ENSP00000343764.6:p.Arg32239Thr
ENST00000359218.9:c.77600G>C (TTN)	ENSP00000352154.5:p.Arg25867Thr
ENST00000460472.6:c.77225G>C (TTN)	ENSP00000434586.1:p.Arg25742Thr
ENST00000589042.5:c.104420G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34807Thr
ENST00000591111.5:c.99497G>C (TTN)	ENSP00000465570.1:p.Arg33166Thr
ENST00000615779.4:c.99497G>C (TTN)	ENSP00000483597.1:p.Arg33166Thr
NM_001256850.1:c.99497G>C (TTN)	NP_001243779.1:p.Arg33166Thr
NM_001267550.2:c.104420G>C (TTN) MANE Select	NP_001254479.2:p.Arg34807Thr
NM_003319.4:c.77225G>C (TTN)	NP_003310.4:p.Arg25742Thr
NM_133378.4:c.96716G>C (TTN)	NP_596869.4:p.Arg32239Thr
NM_133432.3:c.77600G>C (TTN)	NP_597676.3:p.Arg25867Thr
NM_133437.4:c.77801G>C (TTN)	NP_597681.4:p.Arg25934Thr
NR_038271.1:n.446+8559C>G (TTN-AS1)
NR_038272.1:n.220-3537C>G (TTN-AS1)
XM_011511729.1:c.103517G>C (TTN)	XP_011510031.1:p.Arg34506Thr
XM_011511730.1:c.77411G>C (TTN)	XP_011510032.1:p.Arg25804Thr
XM_011511731.1:c.77270G>C (TTN)	XP_011510033.1:p.Arg25757Thr
XM_017004819.1:c.103313G>C (TTN)	XP_016860308.1:p.Arg34438Thr
XM_017004820.1:c.98711G>C (TTN)	XP_016860309.1:p.Arg32904Thr
XM_017004821.1:c.98708G>C (TTN)	XP_016860310.1:p.Arg32903Thr
XM_017004822.1:c.95750G>C (TTN)	XP_016860311.1:p.Arg31917Thr
XM_017004823.1:c.77366G>C (TTN)	XP_016860312.1:p.Arg25789Thr
XM_024453094.1:c.98861G>C (TTN)	XP_024308862.1:p.Arg32954Thr
XM_024453095.1:c.98858G>C (TTN)	XP_024308863.1:p.Arg32953Thr
XM_024453096.1:c.98291G>C (TTN)	XP_024308864.1:p.Arg32764Thr
XM_024453097.1:c.95633G>C (TTN)	XP_024308865.1:p.Arg31878Thr
XM_024453098.1:c.95552G>C (TTN)	XP_024308866.1:p.Arg31851Thr
XM_024453099.1:c.77315G>C (TTN)	XP_024308867.1:p.Arg25772Thr
XM_024453100.1:c.67169G>C (TTN)	XP_024308868.1:p.Arg22390Thr