Canonical Allele Identifier: CA349480068

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455741C>A (hg19) ; chr2:g.178591014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591014C>A , CM000664.2:g.178591014C>A	GRCh38
NC_000002.11:g.179455741C>A , CM000664.1:g.179455741C>A	GRCh37
NC_000002.10:g.179163987C>A	NCBI36
NG_011618.3:g.244789G>T , LRG_391:g.244789G>T
NG_051363.1:g.73188C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53007G>T (TTN)	ENSP00000343764.6:p.Gln17669His
ENST00000342175.11:c.34092G>T (TTN)	ENSP00000340554.6:p.Gln11364His
ENST00000359218.10:c.33891G>T (TTN)	ENSP00000352154.5:p.Gln11297His
ENST00000342175.10:c.34092G>T (TTN)	ENSP00000340554.6:p.Gln11364His
ENST00000342992.10:c.53007G>T (TTN)	ENSP00000343764.6:p.Gln17669His
ENST00000359218.9:c.33891G>T (TTN)	ENSP00000352154.5:p.Gln11297His
ENST00000460472.6:c.33516G>T (TTN)	ENSP00000434586.1:p.Gln11172His
ENST00000589042.5:c.60711G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln20237His
ENST00000591111.5:c.55788G>T (TTN)	ENSP00000465570.1:p.Gln18596His
ENST00000615779.4:c.55788G>T (TTN)	ENSP00000483597.1:p.Gln18596His
NM_001256850.1:c.55788G>T (TTN)	NP_001243779.1:p.Gln18596His
NM_001267550.2:c.60711G>T (TTN) MANE Select	NP_001254479.2:p.Gln20237His
NM_003319.4:c.33516G>T (TTN)	NP_003310.4:p.Gln11172His
NM_133378.4:c.53007G>T (TTN)	NP_596869.4:p.Gln17669His
NM_133432.3:c.33891G>T (TTN)	NP_597676.3:p.Gln11297His
NM_133437.4:c.34092G>T (TTN)	NP_597681.4:p.Gln11364His
NR_038271.1:n.597-6582C>A (TTN-AS1)
NR_038272.1:n.3189-125C>A (TTN-AS1)
XM_011511729.1:c.59808G>T (TTN)	XP_011510031.1:p.Gln19936His
XM_011511730.1:c.33702G>T (TTN)	XP_011510032.1:p.Gln11234His
XM_011511731.1:c.33561G>T (TTN)	XP_011510033.1:p.Gln11187His
XM_017004819.1:c.59604G>T (TTN)	XP_016860308.1:p.Gln19868His
XM_017004820.1:c.55002G>T (TTN)	XP_016860309.1:p.Gln18334His
XM_017004821.1:c.54999G>T (TTN)	XP_016860310.1:p.Gln18333His
XM_017004822.1:c.52041G>T (TTN)	XP_016860311.1:p.Gln17347His
XM_017004823.1:c.33657G>T (TTN)	XP_016860312.1:p.Gln11219His
XM_024453094.1:c.55152G>T (TTN)	XP_024308862.1:p.Gln18384His
XM_024453095.1:c.55149G>T (TTN)	XP_024308863.1:p.Gln18383His
XM_024453096.1:c.54582G>T (TTN)	XP_024308864.1:p.Gln18194His
XM_024453097.1:c.51924G>T (TTN)	XP_024308865.1:p.Gln17308His
XM_024453098.1:c.51843G>T (TTN)	XP_024308866.1:p.Gln17281His
XM_024453099.1:c.33606G>T (TTN)	XP_024308867.1:p.Gln11202His
XM_024453100.1:c.23460G>T (TTN)	XP_024308868.1:p.Gln7820His