Canonical Allele Identifier: CA16610256

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405176
• ClinVar RCV Id: RCV000467875
• dbSNP Id: rs1060500586
• MyVariant Identifiers: chr2:g.179422522C>A (hg19) ; chr2:g.178557795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557795C>A , CM000664.2:g.178557795C>A	GRCh38
NC_000002.11:g.179422522C>A , CM000664.1:g.179422522C>A	GRCh37
NC_000002.10:g.179130768C>A	NCBI36
NG_011618.3:g.278008G>T , LRG_391:g.278008G>T
NG_051363.1:g.39969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.79855G>T (TTN)	ENSP00000343764.6:p.Glu26619Ter
ENST00000342175.11:c.60940G>T (TTN)	ENSP00000340554.6:p.Glu20314Ter
ENST00000359218.10:c.60739G>T (TTN)	ENSP00000352154.5:p.Glu20247Ter
ENST00000342175.10:c.60940G>T (TTN)	ENSP00000340554.6:p.Glu20314Ter
ENST00000342992.10:c.79855G>T (TTN)	ENSP00000343764.6:p.Glu26619Ter
ENST00000359218.9:c.60739G>T (TTN)	ENSP00000352154.5:p.Glu20247Ter
ENST00000460472.6:c.60364G>T (TTN)	ENSP00000434586.1:p.Glu20122Ter
ENST00000589042.5:c.87559G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu29187Ter
ENST00000591111.5:c.82636G>T (TTN)	ENSP00000465570.1:p.Glu27546Ter
ENST00000615779.4:c.82636G>T (TTN)	ENSP00000483597.1:p.Glu27546Ter
NM_001256850.1:c.82636G>T (TTN)	NP_001243779.1:p.Glu27546Ter
NM_001267550.2:c.87559G>T (TTN) MANE Select	NP_001254479.2:p.Glu29187Ter
NM_003319.4:c.60364G>T (TTN)	NP_003310.4:p.Glu20122Ter
NM_133378.4:c.79855G>T (TTN)	NP_596869.4:p.Glu26619Ter
NM_133432.3:c.60739G>T (TTN)	NP_597676.3:p.Glu20247Ter
NM_133437.4:c.60940G>T (TTN)	NP_597681.4:p.Glu20314Ter
NR_038271.1:n.447-13505C>A (TTN-AS1)
NR_038272.1:n.2043+15434C>A (TTN-AS1)
XM_011511729.1:c.86656G>T (TTN)	XP_011510031.1:p.Glu28886Ter
XM_011511730.1:c.60550G>T (TTN)	XP_011510032.1:p.Glu20184Ter
XM_011511731.1:c.60409G>T (TTN)	XP_011510033.1:p.Glu20137Ter
XM_017004819.1:c.86452G>T (TTN)	XP_016860308.1:p.Glu28818Ter
XM_017004820.1:c.81850G>T (TTN)	XP_016860309.1:p.Glu27284Ter
XM_017004821.1:c.81847G>T (TTN)	XP_016860310.1:p.Glu27283Ter
XM_017004822.1:c.78889G>T (TTN)	XP_016860311.1:p.Glu26297Ter
XM_017004823.1:c.60505G>T (TTN)	XP_016860312.1:p.Glu20169Ter
XM_024453094.1:c.82000G>T (TTN)	XP_024308862.1:p.Glu27334Ter
XM_024453095.1:c.81997G>T (TTN)	XP_024308863.1:p.Glu27333Ter
XM_024453096.1:c.81430G>T (TTN)	XP_024308864.1:p.Glu27144Ter
XM_024453097.1:c.78772G>T (TTN)	XP_024308865.1:p.Glu26258Ter
XM_024453098.1:c.78691G>T (TTN)	XP_024308866.1:p.Glu26231Ter
XM_024453099.1:c.60454G>T (TTN)	XP_024308867.1:p.Glu20152Ter
XM_024453100.1:c.50308G>T (TTN)	XP_024308868.1:p.Glu16770Ter