Canonical Allele Identifier: CA430267871

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1232648320
• gnomAD v2: 2-179457797-T-A
• gnomAD v4: 2-178593070-T-A
• MyVariant Identifiers: chr2:g.179457797T>A (hg19) ; chr2:g.178593070T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593070T>A , CM000664.2:g.178593070T>A	GRCh38
NC_000002.11:g.179457797T>A , CM000664.1:g.179457797T>A	GRCh37
NC_000002.10:g.179166043T>A	NCBI36
NG_011618.3:g.242733A>T , LRG_391:g.242733A>T
NG_051363.1:g.75244T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51345A>T (TTN)	ENSP00000343764.6:p.Pro17115=
ENST00000342175.11:c.32430A>T (TTN)	ENSP00000340554.6:p.Pro10810=
ENST00000359218.10:c.32229A>T (TTN)	ENSP00000352154.5:p.Pro10743=
ENST00000342175.10:c.32430A>T (TTN)	ENSP00000340554.6:p.Pro10810=
ENST00000342992.10:c.51345A>T (TTN)	ENSP00000343764.6:p.Pro17115=
ENST00000359218.9:c.32229A>T (TTN)	ENSP00000352154.5:p.Pro10743=
ENST00000460472.6:c.31854A>T (TTN)	ENSP00000434586.1:p.Pro10618=
ENST00000589042.5:c.59049A>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19683=
ENST00000591111.5:c.54126A>T (TTN)	ENSP00000465570.1:p.Pro18042=
ENST00000615779.4:c.54126A>T (TTN)	ENSP00000483597.1:p.Pro18042=
NM_001256850.1:c.54126A>T (TTN)	NP_001243779.1:p.Pro18042=
NM_001267550.2:c.59049A>T (TTN) MANE Select	NP_001254479.2:p.Pro19683=
NM_003319.4:c.31854A>T (TTN)	NP_003310.4:p.Pro10618=
NM_133378.4:c.51345A>T (TTN)	NP_596869.4:p.Pro17115=
NM_133432.3:c.32229A>T (TTN)	NP_597676.3:p.Pro10743=
NM_133437.4:c.32430A>T (TTN)	NP_597681.4:p.Pro10810=
NR_038271.1:n.597-4526T>A (TTN-AS1)
NR_038272.1:n.3364+1756T>A (TTN-AS1)
XM_011511729.1:c.58146A>T (TTN)	XP_011510031.1:p.Pro19382=
XM_011511730.1:c.32040A>T (TTN)	XP_011510032.1:p.Pro10680=
XM_011511731.1:c.31899A>T (TTN)	XP_011510033.1:p.Pro10633=
XM_017004819.1:c.57942A>T (TTN)	XP_016860308.1:p.Pro19314=
XM_017004820.1:c.53340A>T (TTN)	XP_016860309.1:p.Pro17780=
XM_017004821.1:c.53337A>T (TTN)	XP_016860310.1:p.Pro17779=
XM_017004822.1:c.50379A>T (TTN)	XP_016860311.1:p.Pro16793=
XM_017004823.1:c.31995A>T (TTN)	XP_016860312.1:p.Pro10665=
XM_024453094.1:c.53490A>T (TTN)	XP_024308862.1:p.Pro17830=
XM_024453095.1:c.53487A>T (TTN)	XP_024308863.1:p.Pro17829=
XM_024453096.1:c.52920A>T (TTN)	XP_024308864.1:p.Pro17640=
XM_024453097.1:c.50262A>T (TTN)	XP_024308865.1:p.Pro16754=
XM_024453098.1:c.50181A>T (TTN)	XP_024308866.1:p.Pro16727=
XM_024453099.1:c.31944A>T (TTN)	XP_024308867.1:p.Pro10648=
XM_024453100.1:c.21798A>T (TTN)	XP_024308868.1:p.Pro7266=