Canonical Allele Identifier: CA349423342

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444297C>A (hg19) ; chr2:g.178579570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579570C>A , CM000664.2:g.178579570C>A	GRCh38
NC_000002.11:g.179444297C>A , CM000664.1:g.179444297C>A	GRCh37
NC_000002.10:g.179152543C>A	NCBI36
NG_011618.3:g.256233G>T , LRG_391:g.256233G>T
NG_051363.1:g.61744C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59923G>T (TTN)	ENSP00000343764.6:p.Asp19975Tyr
ENST00000342175.11:c.41008G>T (TTN)	ENSP00000340554.6:p.Asp13670Tyr
ENST00000359218.10:c.40807G>T (TTN)	ENSP00000352154.5:p.Asp13603Tyr
ENST00000342175.10:c.41008G>T (TTN)	ENSP00000340554.6:p.Asp13670Tyr
ENST00000342992.10:c.59923G>T (TTN)	ENSP00000343764.6:p.Asp19975Tyr
ENST00000359218.9:c.40807G>T (TTN)	ENSP00000352154.5:p.Asp13603Tyr
ENST00000460472.6:c.40432G>T (TTN)	ENSP00000434586.1:p.Asp13478Tyr
ENST00000589042.5:c.67627G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp22543Tyr
ENST00000591111.5:c.62704G>T (TTN)	ENSP00000465570.1:p.Asp20902Tyr
ENST00000615779.4:c.62704G>T (TTN)	ENSP00000483597.1:p.Asp20902Tyr
NM_001256850.1:c.62704G>T (TTN)	NP_001243779.1:p.Asp20902Tyr
NM_001267550.2:c.67627G>T (TTN) MANE Select	NP_001254479.2:p.Asp22543Tyr
NM_003319.4:c.40432G>T (TTN)	NP_003310.4:p.Asp13478Tyr
NM_133378.4:c.59923G>T (TTN)	NP_596869.4:p.Asp19975Tyr
NM_133432.3:c.40807G>T (TTN)	NP_597676.3:p.Asp13603Tyr
NM_133437.4:c.41008G>T (TTN)	NP_597681.4:p.Asp13670Tyr
NR_038271.1:n.596+8121C>A (TTN-AS1)
NR_038272.1:n.2044-3002C>A (TTN-AS1)
XM_011511729.1:c.66724G>T (TTN)	XP_011510031.1:p.Asp22242Tyr
XM_011511730.1:c.40618G>T (TTN)	XP_011510032.1:p.Asp13540Tyr
XM_011511731.1:c.40477G>T (TTN)	XP_011510033.1:p.Asp13493Tyr
XM_017004819.1:c.66520G>T (TTN)	XP_016860308.1:p.Asp22174Tyr
XM_017004820.1:c.61918G>T (TTN)	XP_016860309.1:p.Asp20640Tyr
XM_017004821.1:c.61915G>T (TTN)	XP_016860310.1:p.Asp20639Tyr
XM_017004822.1:c.58957G>T (TTN)	XP_016860311.1:p.Asp19653Tyr
XM_017004823.1:c.40573G>T (TTN)	XP_016860312.1:p.Asp13525Tyr
XM_024453094.1:c.62068G>T (TTN)	XP_024308862.1:p.Asp20690Tyr
XM_024453095.1:c.62065G>T (TTN)	XP_024308863.1:p.Asp20689Tyr
XM_024453096.1:c.61498G>T (TTN)	XP_024308864.1:p.Asp20500Tyr
XM_024453097.1:c.58840G>T (TTN)	XP_024308865.1:p.Asp19614Tyr
XM_024453098.1:c.58759G>T (TTN)	XP_024308866.1:p.Asp19587Tyr
XM_024453099.1:c.40522G>T (TTN)	XP_024308867.1:p.Asp13508Tyr
XM_024453100.1:c.30376G>T (TTN)	XP_024308868.1:p.Asp10126Tyr