Canonical Allele Identifier: CA430274860

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618684-G-A
• MyVariant Identifiers: chr2:g.179483411G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618684G>A , CM000664.2:g.178618684G>A	GRCh38
NC_000002.11:g.179483411G>A , CM000664.1:g.179483411G>A	GRCh37
NC_000002.10:g.179191656G>A	NCBI36
NG_011618.3:g.217119C>T , LRG_391:g.217119C>T
NG_051363.1:g.100858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39162C>T (TTN)	ENSP00000343764.6:p.Phe13054=
ENST00000342175.11:c.20247C>T (TTN)	ENSP00000340554.6:p.Phe6749=
ENST00000359218.10:c.20046C>T (TTN)	ENSP00000352154.5:p.Phe6682=
ENST00000342175.10:c.20247C>T (TTN)	ENSP00000340554.6:p.Phe6749=
ENST00000342992.10:c.39162C>T (TTN)	ENSP00000343764.6:p.Phe13054=
ENST00000359218.9:c.20046C>T (TTN)	ENSP00000352154.5:p.Phe6682=
ENST00000460472.6:c.19671C>T (TTN)	ENSP00000434586.1:p.Phe6557=
ENST00000589042.5:c.46866C>T (TTN) MANE Select	ENSP00000467141.1:p.Phe15622=
ENST00000591111.5:c.41943C>T (TTN)	ENSP00000465570.1:p.Phe13981=
ENST00000615779.4:c.41943C>T (TTN)	ENSP00000483597.1:p.Phe13981=
NM_001256850.1:c.41943C>T (TTN)	NP_001243779.1:p.Phe13981=
NM_001267550.2:c.46866C>T (TTN) MANE Select	NP_001254479.2:p.Phe15622=
NM_003319.4:c.19671C>T (TTN)	NP_003310.4:p.Phe6557=
NM_133378.4:c.39162C>T (TTN)	NP_596869.4:p.Phe13054=
NM_133432.3:c.20046C>T (TTN)	NP_597676.3:p.Phe6682=
NM_133437.4:c.20247C>T (TTN)	NP_597681.4:p.Phe6749=
NR_038271.1:n.1605-1069G>A (TTN-AS1)
XM_011511729.1:c.45963C>T (TTN)	XP_011510031.1:p.Phe15321=
XM_011511730.1:c.19857C>T (TTN)	XP_011510032.1:p.Phe6619=
XM_011511731.1:c.19716C>T (TTN)	XP_011510033.1:p.Phe6572=
XM_017004819.1:c.45759C>T (TTN)	XP_016860308.1:p.Phe15253=
XM_017004820.1:c.41157C>T (TTN)	XP_016860309.1:p.Phe13719=
XM_017004821.1:c.41154C>T (TTN)	XP_016860310.1:p.Phe13718=
XM_017004822.1:c.38196C>T (TTN)	XP_016860311.1:p.Phe12732=
XM_017004823.1:c.19812C>T (TTN)	XP_016860312.1:p.Phe6604=
XM_024453094.1:c.41307C>T (TTN)	XP_024308862.1:p.Phe13769=
XM_024453095.1:c.41304C>T (TTN)	XP_024308863.1:p.Phe13768=
XM_024453096.1:c.40737C>T (TTN)	XP_024308864.1:p.Phe13579=
XM_024453097.1:c.38079C>T (TTN)	XP_024308865.1:p.Phe12693=
XM_024453098.1:c.37998C>T (TTN)	XP_024308866.1:p.Phe12666=
XM_024453099.1:c.19761C>T (TTN)	XP_024308867.1:p.Phe6587=
XM_024453100.1:c.9615C>T (TTN)	XP_024308868.1:p.Phe3205=