Canonical Allele Identifier: CA349480011

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591010-C-G
• MyVariant Identifiers: chr2:g.179455737C>G (hg19) ; chr2:g.178591010C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591010C>G , CM000664.2:g.178591010C>G	GRCh38
NC_000002.11:g.179455737C>G , CM000664.1:g.179455737C>G	GRCh37
NC_000002.10:g.179163983C>G	NCBI36
NG_011618.3:g.244793G>C , LRG_391:g.244793G>C
NG_051363.1:g.73184C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53011G>C (TTN)	ENSP00000343764.6:p.Gly17671Arg
ENST00000342175.11:c.34096G>C (TTN)	ENSP00000340554.6:p.Gly11366Arg
ENST00000359218.10:c.33895G>C (TTN)	ENSP00000352154.5:p.Gly11299Arg
ENST00000342175.10:c.34096G>C (TTN)	ENSP00000340554.6:p.Gly11366Arg
ENST00000342992.10:c.53011G>C (TTN)	ENSP00000343764.6:p.Gly17671Arg
ENST00000359218.9:c.33895G>C (TTN)	ENSP00000352154.5:p.Gly11299Arg
ENST00000460472.6:c.33520G>C (TTN)	ENSP00000434586.1:p.Gly11174Arg
ENST00000589042.5:c.60715G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly20239Arg
ENST00000591111.5:c.55792G>C (TTN)	ENSP00000465570.1:p.Gly18598Arg
ENST00000615779.4:c.55792G>C (TTN)	ENSP00000483597.1:p.Gly18598Arg
NM_001256850.1:c.55792G>C (TTN)	NP_001243779.1:p.Gly18598Arg
NM_001267550.2:c.60715G>C (TTN) MANE Select	NP_001254479.2:p.Gly20239Arg
NM_003319.4:c.33520G>C (TTN)	NP_003310.4:p.Gly11174Arg
NM_133378.4:c.53011G>C (TTN)	NP_596869.4:p.Gly17671Arg
NM_133432.3:c.33895G>C (TTN)	NP_597676.3:p.Gly11299Arg
NM_133437.4:c.34096G>C (TTN)	NP_597681.4:p.Gly11366Arg
NR_038271.1:n.597-6586C>G (TTN-AS1)
NR_038272.1:n.3189-129C>G (TTN-AS1)
XM_011511729.1:c.59812G>C (TTN)	XP_011510031.1:p.Gly19938Arg
XM_011511730.1:c.33706G>C (TTN)	XP_011510032.1:p.Gly11236Arg
XM_011511731.1:c.33565G>C (TTN)	XP_011510033.1:p.Gly11189Arg
XM_017004819.1:c.59608G>C (TTN)	XP_016860308.1:p.Gly19870Arg
XM_017004820.1:c.55006G>C (TTN)	XP_016860309.1:p.Gly18336Arg
XM_017004821.1:c.55003G>C (TTN)	XP_016860310.1:p.Gly18335Arg
XM_017004822.1:c.52045G>C (TTN)	XP_016860311.1:p.Gly17349Arg
XM_017004823.1:c.33661G>C (TTN)	XP_016860312.1:p.Gly11221Arg
XM_024453094.1:c.55156G>C (TTN)	XP_024308862.1:p.Gly18386Arg
XM_024453095.1:c.55153G>C (TTN)	XP_024308863.1:p.Gly18385Arg
XM_024453096.1:c.54586G>C (TTN)	XP_024308864.1:p.Gly18196Arg
XM_024453097.1:c.51928G>C (TTN)	XP_024308865.1:p.Gly17310Arg
XM_024453098.1:c.51847G>C (TTN)	XP_024308866.1:p.Gly17283Arg
XM_024453099.1:c.33610G>C (TTN)	XP_024308867.1:p.Gly11204Arg
XM_024453100.1:c.23464G>C (TTN)	XP_024308868.1:p.Gly7822Arg