Canonical Allele Identifier: CA349568239

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179472310G>T (hg19) ; chr2:g.178607583G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607583G>T , CM000664.2:g.178607583G>T	GRCh38
NC_000002.11:g.179472310G>T , CM000664.1:g.179472310G>T	GRCh37
NC_000002.10:g.179180555G>T	NCBI36
NG_011618.3:g.228220C>A , LRG_391:g.228220C>A
NG_051363.1:g.89757G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45401C>A (TTN)	ENSP00000343764.6:p.Pro15134His
ENST00000342175.11:c.26486C>A (TTN)	ENSP00000340554.6:p.Pro8829His
ENST00000359218.10:c.26285C>A (TTN)	ENSP00000352154.5:p.Pro8762His
ENST00000342175.10:c.26486C>A (TTN)	ENSP00000340554.6:p.Pro8829His
ENST00000342992.10:c.45401C>A (TTN)	ENSP00000343764.6:p.Pro15134His
ENST00000359218.9:c.26285C>A (TTN)	ENSP00000352154.5:p.Pro8762His
ENST00000460472.6:c.25910C>A (TTN)	ENSP00000434586.1:p.Pro8637His
ENST00000589042.5:c.53105C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro17702His
ENST00000591111.5:c.48182C>A (TTN)	ENSP00000465570.1:p.Pro16061His
ENST00000615779.4:c.48182C>A (TTN)	ENSP00000483597.1:p.Pro16061His
NM_001256850.1:c.48182C>A (TTN)	NP_001243779.1:p.Pro16061His
NM_001267550.2:c.53105C>A (TTN) MANE Select	NP_001254479.2:p.Pro17702His
NM_003319.4:c.25910C>A (TTN)	NP_003310.4:p.Pro8637His
NM_133378.4:c.45401C>A (TTN)	NP_596869.4:p.Pro15134His
NM_133432.3:c.26285C>A (TTN)	NP_597676.3:p.Pro8762His
NM_133437.4:c.26486C>A (TTN)	NP_597681.4:p.Pro8829His
NR_038271.1:n.683-584G>T (TTN-AS1)
XM_011511729.1:c.52202C>A (TTN)	XP_011510031.1:p.Pro17401His
XM_011511730.1:c.26096C>A (TTN)	XP_011510032.1:p.Pro8699His
XM_011511731.1:c.25955C>A (TTN)	XP_011510033.1:p.Pro8652His
XM_017004819.1:c.51998C>A (TTN)	XP_016860308.1:p.Pro17333His
XM_017004820.1:c.47396C>A (TTN)	XP_016860309.1:p.Pro15799His
XM_017004821.1:c.47393C>A (TTN)	XP_016860310.1:p.Pro15798His
XM_017004822.1:c.44435C>A (TTN)	XP_016860311.1:p.Pro14812His
XM_017004823.1:c.26051C>A (TTN)	XP_016860312.1:p.Pro8684His
XM_024453094.1:c.47546C>A (TTN)	XP_024308862.1:p.Pro15849His
XM_024453095.1:c.47543C>A (TTN)	XP_024308863.1:p.Pro15848His
XM_024453096.1:c.46976C>A (TTN)	XP_024308864.1:p.Pro15659His
XM_024453097.1:c.44318C>A (TTN)	XP_024308865.1:p.Pro14773His
XM_024453098.1:c.44237C>A (TTN)	XP_024308866.1:p.Pro14746His
XM_024453099.1:c.26000C>A (TTN)	XP_024308867.1:p.Pro8667His
XM_024453100.1:c.15854C>A (TTN)	XP_024308868.1:p.Pro5285His