Canonical Allele Identifier: CA349621822

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435279A>C (hg19) ; chr2:g.178570552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570552A>C , CM000664.2:g.178570552A>C	GRCh38
NC_000002.11:g.179435279A>C , CM000664.1:g.179435279A>C	GRCh37
NC_000002.10:g.179143525A>C	NCBI36
NG_011618.3:g.265251T>G , LRG_391:g.265251T>G
NG_051363.1:g.52726A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67876T>G (TTN)	ENSP00000343764.6:p.Ser22626Ala
ENST00000342175.11:c.48961T>G (TTN)	ENSP00000340554.6:p.Ser16321Ala
ENST00000359218.10:c.48760T>G (TTN)	ENSP00000352154.5:p.Ser16254Ala
ENST00000342175.10:c.48961T>G (TTN)	ENSP00000340554.6:p.Ser16321Ala
ENST00000342992.10:c.67876T>G (TTN)	ENSP00000343764.6:p.Ser22626Ala
ENST00000359218.9:c.48760T>G (TTN)	ENSP00000352154.5:p.Ser16254Ala
ENST00000460472.6:c.48385T>G (TTN)	ENSP00000434586.1:p.Ser16129Ala
ENST00000589042.5:c.75580T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser25194Ala
ENST00000591111.5:c.70657T>G (TTN)	ENSP00000465570.1:p.Ser23553Ala
ENST00000615779.4:c.70657T>G (TTN)	ENSP00000483597.1:p.Ser23553Ala
NM_001256850.1:c.70657T>G (TTN)	NP_001243779.1:p.Ser23553Ala
NM_001267550.2:c.75580T>G (TTN) MANE Select	NP_001254479.2:p.Ser25194Ala
NM_003319.4:c.48385T>G (TTN)	NP_003310.4:p.Ser16129Ala
NM_133378.4:c.67876T>G (TTN)	NP_596869.4:p.Ser22626Ala
NM_133432.3:c.48760T>G (TTN)	NP_597676.3:p.Ser16254Ala
NM_133437.4:c.48961T>G (TTN)	NP_597681.4:p.Ser16321Ala
NR_038271.1:n.447-748A>C (TTN-AS1)
NR_038272.1:n.2044-12020A>C (TTN-AS1)
XM_011511729.1:c.74677T>G (TTN)	XP_011510031.1:p.Ser24893Ala
XM_011511730.1:c.48571T>G (TTN)	XP_011510032.1:p.Ser16191Ala
XM_011511731.1:c.48430T>G (TTN)	XP_011510033.1:p.Ser16144Ala
XM_017004819.1:c.74473T>G (TTN)	XP_016860308.1:p.Ser24825Ala
XM_017004820.1:c.69871T>G (TTN)	XP_016860309.1:p.Ser23291Ala
XM_017004821.1:c.69868T>G (TTN)	XP_016860310.1:p.Ser23290Ala
XM_017004822.1:c.66910T>G (TTN)	XP_016860311.1:p.Ser22304Ala
XM_017004823.1:c.48526T>G (TTN)	XP_016860312.1:p.Ser16176Ala
XM_024453094.1:c.70021T>G (TTN)	XP_024308862.1:p.Ser23341Ala
XM_024453095.1:c.70018T>G (TTN)	XP_024308863.1:p.Ser23340Ala
XM_024453096.1:c.69451T>G (TTN)	XP_024308864.1:p.Ser23151Ala
XM_024453097.1:c.66793T>G (TTN)	XP_024308865.1:p.Ser22265Ala
XM_024453098.1:c.66712T>G (TTN)	XP_024308866.1:p.Ser22238Ala
XM_024453099.1:c.48475T>G (TTN)	XP_024308867.1:p.Ser16159Ala
XM_024453100.1:c.38329T>G (TTN)	XP_024308868.1:p.Ser12777Ala