Canonical Allele Identifier: CA349629155

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435781C>A (hg19) ; chr2:g.178571054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571054C>A , CM000664.2:g.178571054C>A	GRCh38
NC_000002.11:g.179435781C>A , CM000664.1:g.179435781C>A	GRCh37
NC_000002.10:g.179144027C>A	NCBI36
NG_011618.3:g.264749G>T , LRG_391:g.264749G>T
NG_051363.1:g.53228C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67374G>T (TTN)	ENSP00000343764.6:p.Gln22458His
ENST00000342175.11:c.48459G>T (TTN)	ENSP00000340554.6:p.Gln16153His
ENST00000359218.10:c.48258G>T (TTN)	ENSP00000352154.5:p.Gln16086His
ENST00000342175.10:c.48459G>T (TTN)	ENSP00000340554.6:p.Gln16153His
ENST00000342992.10:c.67374G>T (TTN)	ENSP00000343764.6:p.Gln22458His
ENST00000359218.9:c.48258G>T (TTN)	ENSP00000352154.5:p.Gln16086His
ENST00000460472.6:c.47883G>T (TTN)	ENSP00000434586.1:p.Gln15961His
ENST00000589042.5:c.75078G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln25026His
ENST00000591111.5:c.70155G>T (TTN)	ENSP00000465570.1:p.Gln23385His
ENST00000615779.4:c.70155G>T (TTN)	ENSP00000483597.1:p.Gln23385His
NM_001256850.1:c.70155G>T (TTN)	NP_001243779.1:p.Gln23385His
NM_001267550.2:c.75078G>T (TTN) MANE Select	NP_001254479.2:p.Gln25026His
NM_003319.4:c.47883G>T (TTN)	NP_003310.4:p.Gln15961His
NM_133378.4:c.67374G>T (TTN)	NP_596869.4:p.Gln22458His
NM_133432.3:c.48258G>T (TTN)	NP_597676.3:p.Gln16086His
NM_133437.4:c.48459G>T (TTN)	NP_597681.4:p.Gln16153His
NR_038271.1:n.447-246C>A (TTN-AS1)
NR_038272.1:n.2044-11518C>A (TTN-AS1)
XM_011511729.1:c.74175G>T (TTN)	XP_011510031.1:p.Gln24725His
XM_011511730.1:c.48069G>T (TTN)	XP_011510032.1:p.Gln16023His
XM_011511731.1:c.47928G>T (TTN)	XP_011510033.1:p.Gln15976His
XM_017004819.1:c.73971G>T (TTN)	XP_016860308.1:p.Gln24657His
XM_017004820.1:c.69369G>T (TTN)	XP_016860309.1:p.Gln23123His
XM_017004821.1:c.69366G>T (TTN)	XP_016860310.1:p.Gln23122His
XM_017004822.1:c.66408G>T (TTN)	XP_016860311.1:p.Gln22136His
XM_017004823.1:c.48024G>T (TTN)	XP_016860312.1:p.Gln16008His
XM_024453094.1:c.69519G>T (TTN)	XP_024308862.1:p.Gln23173His
XM_024453095.1:c.69516G>T (TTN)	XP_024308863.1:p.Gln23172His
XM_024453096.1:c.68949G>T (TTN)	XP_024308864.1:p.Gln22983His
XM_024453097.1:c.66291G>T (TTN)	XP_024308865.1:p.Gln22097His
XM_024453098.1:c.66210G>T (TTN)	XP_024308866.1:p.Gln22070His
XM_024453099.1:c.47973G>T (TTN)	XP_024308867.1:p.Gln15991His
XM_024453100.1:c.37827G>T (TTN)	XP_024308868.1:p.Gln12609His