Canonical Allele Identifier: CA349503482

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416485C>A (hg19) ; chr2:g.178551758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551758C>A , CM000664.2:g.178551758C>A	GRCh38
NC_000002.11:g.179416485C>A , CM000664.1:g.179416485C>A	GRCh37
NC_000002.10:g.179124731C>A	NCBI36
NG_011618.3:g.284045G>T , LRG_391:g.284045G>T
NG_051363.1:g.33932C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83438G>T (TTN)	ENSP00000343764.6:p.Gly27813Val
ENST00000342175.11:c.64523G>T (TTN)	ENSP00000340554.6:p.Gly21508Val
ENST00000359218.10:c.64322G>T (TTN)	ENSP00000352154.5:p.Gly21441Val
ENST00000342175.10:c.64523G>T (TTN)	ENSP00000340554.6:p.Gly21508Val
ENST00000342992.10:c.83438G>T (TTN)	ENSP00000343764.6:p.Gly27813Val
ENST00000359218.9:c.64322G>T (TTN)	ENSP00000352154.5:p.Gly21441Val
ENST00000460472.6:c.63947G>T (TTN)	ENSP00000434586.1:p.Gly21316Val
ENST00000589042.5:c.91142G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30381Val
ENST00000591111.5:c.86219G>T (TTN)	ENSP00000465570.1:p.Gly28740Val
ENST00000615779.4:c.86219G>T (TTN)	ENSP00000483597.1:p.Gly28740Val
NM_001256850.1:c.86219G>T (TTN)	NP_001243779.1:p.Gly28740Val
NM_001267550.2:c.91142G>T (TTN) MANE Select	NP_001254479.2:p.Gly30381Val
NM_003319.4:c.63947G>T (TTN)	NP_003310.4:p.Gly21316Val
NM_133378.4:c.83438G>T (TTN)	NP_596869.4:p.Gly27813Val
NM_133432.3:c.64322G>T (TTN)	NP_597676.3:p.Gly21441Val
NM_133437.4:c.64523G>T (TTN)	NP_597681.4:p.Gly21508Val
NR_038271.1:n.447-19542C>A (TTN-AS1)
NR_038272.1:n.2043+9397C>A (TTN-AS1)
XM_011511729.1:c.90239G>T (TTN)	XP_011510031.1:p.Gly30080Val
XM_011511730.1:c.64133G>T (TTN)	XP_011510032.1:p.Gly21378Val
XM_011511731.1:c.63992G>T (TTN)	XP_011510033.1:p.Gly21331Val
XM_017004819.1:c.90035G>T (TTN)	XP_016860308.1:p.Gly30012Val
XM_017004820.1:c.85433G>T (TTN)	XP_016860309.1:p.Gly28478Val
XM_017004821.1:c.85430G>T (TTN)	XP_016860310.1:p.Gly28477Val
XM_017004822.1:c.82472G>T (TTN)	XP_016860311.1:p.Gly27491Val
XM_017004823.1:c.64088G>T (TTN)	XP_016860312.1:p.Gly21363Val
XM_024453094.1:c.85583G>T (TTN)	XP_024308862.1:p.Gly28528Val
XM_024453095.1:c.85580G>T (TTN)	XP_024308863.1:p.Gly28527Val
XM_024453096.1:c.85013G>T (TTN)	XP_024308864.1:p.Gly28338Val
XM_024453097.1:c.82355G>T (TTN)	XP_024308865.1:p.Gly27452Val
XM_024453098.1:c.82274G>T (TTN)	XP_024308866.1:p.Gly27425Val
XM_024453099.1:c.64037G>T (TTN)	XP_024308867.1:p.Gly21346Val
XM_024453100.1:c.53891G>T (TTN)	XP_024308868.1:p.Gly17964Val