Canonical Allele Identifier: CA430244868

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 3223329
• ClinVar RCV Id: RCV004508684
• MyVariant Identifiers: chr2:g.179414580T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549853T>C , CM000664.2:g.178549853T>C	GRCh38
NC_000002.11:g.179414580T>C , CM000664.1:g.179414580T>C	GRCh37
NC_000002.10:g.179122826T>C	NCBI36
NG_011618.3:g.285950A>G , LRG_391:g.285950A>G
NG_051363.1:g.32027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84165A>G (TTN)	ENSP00000343764.6:p.Val28055=
ENST00000342175.11:c.65250A>G (TTN)	ENSP00000340554.6:p.Val21750=
ENST00000359218.10:c.65049A>G (TTN)	ENSP00000352154.5:p.Val21683=
ENST00000342175.10:c.65250A>G (TTN)	ENSP00000340554.6:p.Val21750=
ENST00000342992.10:c.84165A>G (TTN)	ENSP00000343764.6:p.Val28055=
ENST00000359218.9:c.65049A>G (TTN)	ENSP00000352154.5:p.Val21683=
ENST00000460472.6:c.64674A>G (TTN)	ENSP00000434586.1:p.Val21558=
ENST00000589042.5:c.91869A>G (TTN) MANE Select	ENSP00000467141.1:p.Val30623=
ENST00000591111.5:c.86946A>G (TTN)	ENSP00000465570.1:p.Val28982=
ENST00000615779.4:c.86946A>G (TTN)	ENSP00000483597.1:p.Val28982=
NM_001256850.1:c.86946A>G (TTN)	NP_001243779.1:p.Val28982=
NM_001267550.2:c.91869A>G (TTN) MANE Select	NP_001254479.2:p.Val30623=
NM_003319.4:c.64674A>G (TTN)	NP_003310.4:p.Val21558=
NM_133378.4:c.84165A>G (TTN)	NP_596869.4:p.Val28055=
NM_133432.3:c.65049A>G (TTN)	NP_597676.3:p.Val21683=
NM_133437.4:c.65250A>G (TTN)	NP_597681.4:p.Val21750=
NR_038271.1:n.447-21447T>C (TTN-AS1)
NR_038272.1:n.2043+7492T>C (TTN-AS1)
XM_011511729.1:c.90966A>G (TTN)	XP_011510031.1:p.Val30322=
XM_011511730.1:c.64860A>G (TTN)	XP_011510032.1:p.Val21620=
XM_011511731.1:c.64719A>G (TTN)	XP_011510033.1:p.Val21573=
XM_017004819.1:c.90762A>G (TTN)	XP_016860308.1:p.Val30254=
XM_017004820.1:c.86160A>G (TTN)	XP_016860309.1:p.Val28720=
XM_017004821.1:c.86157A>G (TTN)	XP_016860310.1:p.Val28719=
XM_017004822.1:c.83199A>G (TTN)	XP_016860311.1:p.Val27733=
XM_017004823.1:c.64815A>G (TTN)	XP_016860312.1:p.Val21605=
XM_024453094.1:c.86310A>G (TTN)	XP_024308862.1:p.Val28770=
XM_024453095.1:c.86307A>G (TTN)	XP_024308863.1:p.Val28769=
XM_024453096.1:c.85740A>G (TTN)	XP_024308864.1:p.Val28580=
XM_024453097.1:c.83082A>G (TTN)	XP_024308865.1:p.Val27694=
XM_024453098.1:c.83001A>G (TTN)	XP_024308866.1:p.Val27667=
XM_024453099.1:c.64764A>G (TTN)	XP_024308867.1:p.Val21588=
XM_024453100.1:c.54618A>G (TTN)	XP_024308868.1:p.Val18206=