Canonical Allele Identifier: CA60991509

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs761815745
• gnomAD v3: 2-178619726-C-G
• gnomAD v4: 2-178619726-C-G
• MyVariant Identifiers: chr2:g.179484453C>G (hg19) ; chr2:g.178619726C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178619726C>G , CM000664.2:g.178619726C>G	GRCh38
NC_000002.11:g.179484453C>G , CM000664.1:g.179484453C>G	GRCh37
NC_000002.10:g.179192698C>G	NCBI36
NG_011618.3:g.216077G>C , LRG_391:g.216077G>C
NG_051363.1:g.101900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38887G>C (TTN)	ENSP00000343764.6:p.Gly12963Arg
ENST00000342175.11:c.19972G>C (TTN)	ENSP00000340554.6:p.Gly6658Arg
ENST00000359218.10:c.19771G>C (TTN)	ENSP00000352154.5:p.Gly6591Arg
ENST00000342175.10:c.19972G>C (TTN)	ENSP00000340554.6:p.Gly6658Arg
ENST00000342992.10:c.38887G>C (TTN)	ENSP00000343764.6:p.Gly12963Arg
ENST00000359218.9:c.19771G>C (TTN)	ENSP00000352154.5:p.Gly6591Arg
ENST00000460472.6:c.19396G>C (TTN)	ENSP00000434586.1:p.Gly6466Arg
ENST00000589042.5:c.46591G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly15531Arg
ENST00000591111.5:c.41668G>C (TTN)	ENSP00000465570.1:p.Gly13890Arg
ENST00000615779.4:c.41668G>C (TTN)	ENSP00000483597.1:p.Gly13890Arg
NM_001256850.1:c.41668G>C (TTN)	NP_001243779.1:p.Gly13890Arg
NM_001267550.2:c.46591G>C (TTN) MANE Select	NP_001254479.2:p.Gly15531Arg
NM_003319.4:c.19396G>C (TTN)	NP_003310.4:p.Gly6466Arg
NM_133378.4:c.38887G>C (TTN)	NP_596869.4:p.Gly12963Arg
NM_133432.3:c.19771G>C (TTN)	NP_597676.3:p.Gly6591Arg
NM_133437.4:c.19972G>C (TTN)	NP_597681.4:p.Gly6658Arg
NR_038271.1:n.1605-27C>G (TTN-AS1)
XM_011511729.1:c.45688G>C (TTN)	XP_011510031.1:p.Gly15230Arg
XM_011511730.1:c.19582G>C (TTN)	XP_011510032.1:p.Gly6528Arg
XM_011511731.1:c.19441G>C (TTN)	XP_011510033.1:p.Gly6481Arg
XM_017004819.1:c.45484G>C (TTN)	XP_016860308.1:p.Gly15162Arg
XM_017004820.1:c.40882G>C (TTN)	XP_016860309.1:p.Gly13628Arg
XM_017004821.1:c.40879G>C (TTN)	XP_016860310.1:p.Gly13627Arg
XM_017004822.1:c.37921G>C (TTN)	XP_016860311.1:p.Gly12641Arg
XM_017004823.1:c.19537G>C (TTN)	XP_016860312.1:p.Gly6513Arg
XM_024453094.1:c.41032G>C (TTN)	XP_024308862.1:p.Gly13678Arg
XM_024453095.1:c.41029G>C (TTN)	XP_024308863.1:p.Gly13677Arg
XM_024453096.1:c.40462G>C (TTN)	XP_024308864.1:p.Gly13488Arg
XM_024453097.1:c.37804G>C (TTN)	XP_024308865.1:p.Gly12602Arg
XM_024453098.1:c.37723G>C (TTN)	XP_024308866.1:p.Gly12575Arg
XM_024453099.1:c.19486G>C (TTN)	XP_024308867.1:p.Gly6496Arg
XM_024453100.1:c.9340G>C (TTN)	XP_024308868.1:p.Gly3114Arg