Canonical Allele Identifier: CA349457190

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544411-C-G
• MyVariant Identifiers: chr2:g.179409138C>G (hg19) ; chr2:g.178544411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544411C>G , CM000664.2:g.178544411C>G	GRCh38
NC_000002.11:g.179409138C>G , CM000664.1:g.179409138C>G	GRCh37
NC_000002.10:g.179117384C>G	NCBI36
NG_011618.3:g.291392G>C , LRG_391:g.291392G>C
NG_051363.1:g.26585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88114G>C (TTN)	ENSP00000343764.6:p.Asp29372His
ENST00000342175.11:c.69199G>C (TTN)	ENSP00000340554.6:p.Asp23067His
ENST00000359218.10:c.68998G>C (TTN)	ENSP00000352154.5:p.Asp23000His
ENST00000342175.10:c.69199G>C (TTN)	ENSP00000340554.6:p.Asp23067His
ENST00000342992.10:c.88114G>C (TTN)	ENSP00000343764.6:p.Asp29372His
ENST00000359218.9:c.68998G>C (TTN)	ENSP00000352154.5:p.Asp23000His
ENST00000460472.6:c.68623G>C (TTN)	ENSP00000434586.1:p.Asp22875His
ENST00000589042.5:c.95818G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp31940His
ENST00000591111.5:c.90895G>C (TTN)	ENSP00000465570.1:p.Asp30299His
ENST00000615779.4:c.90895G>C (TTN)	ENSP00000483597.1:p.Asp30299His
NM_001256850.1:c.90895G>C (TTN)	NP_001243779.1:p.Asp30299His
NM_001267550.2:c.95818G>C (TTN) MANE Select	NP_001254479.2:p.Asp31940His
NM_003319.4:c.68623G>C (TTN)	NP_003310.4:p.Asp22875His
NM_133378.4:c.88114G>C (TTN)	NP_596869.4:p.Asp29372His
NM_133432.3:c.68998G>C (TTN)	NP_597676.3:p.Asp23000His
NM_133437.4:c.69199G>C (TTN)	NP_597681.4:p.Asp23067His
NR_038271.1:n.446+20775C>G (TTN-AS1)
NR_038272.1:n.2043+2050C>G (TTN-AS1)
XM_011511729.1:c.94915G>C (TTN)	XP_011510031.1:p.Asp31639His
XM_011511730.1:c.68809G>C (TTN)	XP_011510032.1:p.Asp22937His
XM_011511731.1:c.68668G>C (TTN)	XP_011510033.1:p.Asp22890His
XM_017004819.1:c.94711G>C (TTN)	XP_016860308.1:p.Asp31571His
XM_017004820.1:c.90109G>C (TTN)	XP_016860309.1:p.Asp30037His
XM_017004821.1:c.90106G>C (TTN)	XP_016860310.1:p.Asp30036His
XM_017004822.1:c.87148G>C (TTN)	XP_016860311.1:p.Asp29050His
XM_017004823.1:c.68764G>C (TTN)	XP_016860312.1:p.Asp22922His
XM_024453094.1:c.90259G>C (TTN)	XP_024308862.1:p.Asp30087His
XM_024453095.1:c.90256G>C (TTN)	XP_024308863.1:p.Asp30086His
XM_024453096.1:c.89689G>C (TTN)	XP_024308864.1:p.Asp29897His
XM_024453097.1:c.87031G>C (TTN)	XP_024308865.1:p.Asp29011His
XM_024453098.1:c.86950G>C (TTN)	XP_024308866.1:p.Asp28984His
XM_024453099.1:c.68713G>C (TTN)	XP_024308867.1:p.Asp22905His
XM_024453100.1:c.58567G>C (TTN)	XP_024308868.1:p.Asp19523His