Canonical Allele Identifier: CA349624843

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435371G>C (hg19) ; chr2:g.178570644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570644G>C , CM000664.2:g.178570644G>C	GRCh38
NC_000002.11:g.179435371G>C , CM000664.1:g.179435371G>C	GRCh37
NC_000002.10:g.179143617G>C	NCBI36
NG_011618.3:g.265159C>G , LRG_391:g.265159C>G
NG_051363.1:g.52818G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67784C>G (TTN)	ENSP00000343764.6:p.Thr22595Ser
ENST00000342175.11:c.48869C>G (TTN)	ENSP00000340554.6:p.Thr16290Ser
ENST00000359218.10:c.48668C>G (TTN)	ENSP00000352154.5:p.Thr16223Ser
ENST00000342175.10:c.48869C>G (TTN)	ENSP00000340554.6:p.Thr16290Ser
ENST00000342992.10:c.67784C>G (TTN)	ENSP00000343764.6:p.Thr22595Ser
ENST00000359218.9:c.48668C>G (TTN)	ENSP00000352154.5:p.Thr16223Ser
ENST00000460472.6:c.48293C>G (TTN)	ENSP00000434586.1:p.Thr16098Ser
ENST00000589042.5:c.75488C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25163Ser
ENST00000591111.5:c.70565C>G (TTN)	ENSP00000465570.1:p.Thr23522Ser
ENST00000615779.4:c.70565C>G (TTN)	ENSP00000483597.1:p.Thr23522Ser
NM_001256850.1:c.70565C>G (TTN)	NP_001243779.1:p.Thr23522Ser
NM_001267550.2:c.75488C>G (TTN) MANE Select	NP_001254479.2:p.Thr25163Ser
NM_003319.4:c.48293C>G (TTN)	NP_003310.4:p.Thr16098Ser
NM_133378.4:c.67784C>G (TTN)	NP_596869.4:p.Thr22595Ser
NM_133432.3:c.48668C>G (TTN)	NP_597676.3:p.Thr16223Ser
NM_133437.4:c.48869C>G (TTN)	NP_597681.4:p.Thr16290Ser
NR_038271.1:n.447-656G>C (TTN-AS1)
NR_038272.1:n.2044-11928G>C (TTN-AS1)
XM_011511729.1:c.74585C>G (TTN)	XP_011510031.1:p.Thr24862Ser
XM_011511730.1:c.48479C>G (TTN)	XP_011510032.1:p.Thr16160Ser
XM_011511731.1:c.48338C>G (TTN)	XP_011510033.1:p.Thr16113Ser
XM_017004819.1:c.74381C>G (TTN)	XP_016860308.1:p.Thr24794Ser
XM_017004820.1:c.69779C>G (TTN)	XP_016860309.1:p.Thr23260Ser
XM_017004821.1:c.69776C>G (TTN)	XP_016860310.1:p.Thr23259Ser
XM_017004822.1:c.66818C>G (TTN)	XP_016860311.1:p.Thr22273Ser
XM_017004823.1:c.48434C>G (TTN)	XP_016860312.1:p.Thr16145Ser
XM_024453094.1:c.69929C>G (TTN)	XP_024308862.1:p.Thr23310Ser
XM_024453095.1:c.69926C>G (TTN)	XP_024308863.1:p.Thr23309Ser
XM_024453096.1:c.69359C>G (TTN)	XP_024308864.1:p.Thr23120Ser
XM_024453097.1:c.66701C>G (TTN)	XP_024308865.1:p.Thr22234Ser
XM_024453098.1:c.66620C>G (TTN)	XP_024308866.1:p.Thr22207Ser
XM_024453099.1:c.48383C>G (TTN)	XP_024308867.1:p.Thr16128Ser
XM_024453100.1:c.38237C>G (TTN)	XP_024308868.1:p.Thr12746Ser