Canonical Allele Identifier: CA349628230

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435677A>C (hg19) ; chr2:g.178570950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570950A>C , CM000664.2:g.178570950A>C	GRCh38
NC_000002.11:g.179435677A>C , CM000664.1:g.179435677A>C	GRCh37
NC_000002.10:g.179143923A>C	NCBI36
NG_011618.3:g.264853T>G , LRG_391:g.264853T>G
NG_051363.1:g.53124A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67478T>G (TTN)	ENSP00000343764.6:p.Ile22493Ser
ENST00000342175.11:c.48563T>G (TTN)	ENSP00000340554.6:p.Ile16188Ser
ENST00000359218.10:c.48362T>G (TTN)	ENSP00000352154.5:p.Ile16121Ser
ENST00000342175.10:c.48563T>G (TTN)	ENSP00000340554.6:p.Ile16188Ser
ENST00000342992.10:c.67478T>G (TTN)	ENSP00000343764.6:p.Ile22493Ser
ENST00000359218.9:c.48362T>G (TTN)	ENSP00000352154.5:p.Ile16121Ser
ENST00000460472.6:c.47987T>G (TTN)	ENSP00000434586.1:p.Ile15996Ser
ENST00000589042.5:c.75182T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile25061Ser
ENST00000591111.5:c.70259T>G (TTN)	ENSP00000465570.1:p.Ile23420Ser
ENST00000615779.4:c.70259T>G (TTN)	ENSP00000483597.1:p.Ile23420Ser
NM_001256850.1:c.70259T>G (TTN)	NP_001243779.1:p.Ile23420Ser
NM_001267550.2:c.75182T>G (TTN) MANE Select	NP_001254479.2:p.Ile25061Ser
NM_003319.4:c.47987T>G (TTN)	NP_003310.4:p.Ile15996Ser
NM_133378.4:c.67478T>G (TTN)	NP_596869.4:p.Ile22493Ser
NM_133432.3:c.48362T>G (TTN)	NP_597676.3:p.Ile16121Ser
NM_133437.4:c.48563T>G (TTN)	NP_597681.4:p.Ile16188Ser
NR_038271.1:n.447-350A>C (TTN-AS1)
NR_038272.1:n.2044-11622A>C (TTN-AS1)
XM_011511729.1:c.74279T>G (TTN)	XP_011510031.1:p.Ile24760Ser
XM_011511730.1:c.48173T>G (TTN)	XP_011510032.1:p.Ile16058Ser
XM_011511731.1:c.48032T>G (TTN)	XP_011510033.1:p.Ile16011Ser
XM_017004819.1:c.74075T>G (TTN)	XP_016860308.1:p.Ile24692Ser
XM_017004820.1:c.69473T>G (TTN)	XP_016860309.1:p.Ile23158Ser
XM_017004821.1:c.69470T>G (TTN)	XP_016860310.1:p.Ile23157Ser
XM_017004822.1:c.66512T>G (TTN)	XP_016860311.1:p.Ile22171Ser
XM_017004823.1:c.48128T>G (TTN)	XP_016860312.1:p.Ile16043Ser
XM_024453094.1:c.69623T>G (TTN)	XP_024308862.1:p.Ile23208Ser
XM_024453095.1:c.69620T>G (TTN)	XP_024308863.1:p.Ile23207Ser
XM_024453096.1:c.69053T>G (TTN)	XP_024308864.1:p.Ile23018Ser
XM_024453097.1:c.66395T>G (TTN)	XP_024308865.1:p.Ile22132Ser
XM_024453098.1:c.66314T>G (TTN)	XP_024308866.1:p.Ile22105Ser
XM_024453099.1:c.48077T>G (TTN)	XP_024308867.1:p.Ile16026Ser
XM_024453100.1:c.37931T>G (TTN)	XP_024308868.1:p.Ile12644Ser