Canonical Allele Identifier: CA349672045

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442622G>A (hg19) ; chr2:g.178577895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577895G>A , CM000664.2:g.178577895G>A	GRCh38
NC_000002.11:g.179442622G>A , CM000664.1:g.179442622G>A	GRCh37
NC_000002.10:g.179150868G>A	NCBI36
NG_011618.3:g.257908C>T , LRG_391:g.257908C>T
NG_051363.1:g.60069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60827C>T (TTN)	ENSP00000343764.6:p.Pro20276Leu
ENST00000342175.11:c.41912C>T (TTN)	ENSP00000340554.6:p.Pro13971Leu
ENST00000359218.10:c.41711C>T (TTN)	ENSP00000352154.5:p.Pro13904Leu
ENST00000342175.10:c.41912C>T (TTN)	ENSP00000340554.6:p.Pro13971Leu
ENST00000342992.10:c.60827C>T (TTN)	ENSP00000343764.6:p.Pro20276Leu
ENST00000359218.9:c.41711C>T (TTN)	ENSP00000352154.5:p.Pro13904Leu
ENST00000460472.6:c.41336C>T (TTN)	ENSP00000434586.1:p.Pro13779Leu
ENST00000589042.5:c.68531C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro22844Leu
ENST00000591111.5:c.63608C>T (TTN)	ENSP00000465570.1:p.Pro21203Leu
ENST00000615779.4:c.63608C>T (TTN)	ENSP00000483597.1:p.Pro21203Leu
NM_001256850.1:c.63608C>T (TTN)	NP_001243779.1:p.Pro21203Leu
NM_001267550.2:c.68531C>T (TTN) MANE Select	NP_001254479.2:p.Pro22844Leu
NM_003319.4:c.41336C>T (TTN)	NP_003310.4:p.Pro13779Leu
NM_133378.4:c.60827C>T (TTN)	NP_596869.4:p.Pro20276Leu
NM_133432.3:c.41711C>T (TTN)	NP_597676.3:p.Pro13904Leu
NM_133437.4:c.41912C>T (TTN)	NP_597681.4:p.Pro13971Leu
NR_038271.1:n.596+6446G>A (TTN-AS1)
NR_038272.1:n.2044-4677G>A (TTN-AS1)
XM_011511729.1:c.67628C>T (TTN)	XP_011510031.1:p.Pro22543Leu
XM_011511730.1:c.41522C>T (TTN)	XP_011510032.1:p.Pro13841Leu
XM_011511731.1:c.41381C>T (TTN)	XP_011510033.1:p.Pro13794Leu
XM_017004819.1:c.67424C>T (TTN)	XP_016860308.1:p.Pro22475Leu
XM_017004820.1:c.62822C>T (TTN)	XP_016860309.1:p.Pro20941Leu
XM_017004821.1:c.62819C>T (TTN)	XP_016860310.1:p.Pro20940Leu
XM_017004822.1:c.59861C>T (TTN)	XP_016860311.1:p.Pro19954Leu
XM_017004823.1:c.41477C>T (TTN)	XP_016860312.1:p.Pro13826Leu
XM_024453094.1:c.62972C>T (TTN)	XP_024308862.1:p.Pro20991Leu
XM_024453095.1:c.62969C>T (TTN)	XP_024308863.1:p.Pro20990Leu
XM_024453096.1:c.62402C>T (TTN)	XP_024308864.1:p.Pro20801Leu
XM_024453097.1:c.59744C>T (TTN)	XP_024308865.1:p.Pro19915Leu
XM_024453098.1:c.59663C>T (TTN)	XP_024308866.1:p.Pro19888Leu
XM_024453099.1:c.41426C>T (TTN)	XP_024308867.1:p.Pro13809Leu
XM_024453100.1:c.31280C>T (TTN)	XP_024308868.1:p.Pro10427Leu