Canonical Allele Identifier: CA349411719

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532171-A-T
• MyVariant Identifiers: chr2:g.179396898A>T (hg19) ; chr2:g.178532171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532171A>T , CM000664.2:g.178532171A>T	GRCh38
NC_000002.11:g.179396898A>T , CM000664.1:g.179396898A>T	GRCh37
NC_000002.10:g.179105144A>T	NCBI36
NG_011618.3:g.303632T>A , LRG_391:g.303632T>A
NG_051363.1:g.14345A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96740T>A (TTN)	ENSP00000343764.6:p.Ile32247Asn
ENST00000342175.11:c.77825T>A (TTN)	ENSP00000340554.6:p.Ile25942Asn
ENST00000359218.10:c.77624T>A (TTN)	ENSP00000352154.5:p.Ile25875Asn
ENST00000342175.10:c.77825T>A (TTN)	ENSP00000340554.6:p.Ile25942Asn
ENST00000342992.10:c.96740T>A (TTN)	ENSP00000343764.6:p.Ile32247Asn
ENST00000359218.9:c.77624T>A (TTN)	ENSP00000352154.5:p.Ile25875Asn
ENST00000460472.6:c.77249T>A (TTN)	ENSP00000434586.1:p.Ile25750Asn
ENST00000589042.5:c.104444T>A (TTN) MANE Select	ENSP00000467141.1:p.Ile34815Asn
ENST00000591111.5:c.99521T>A (TTN)	ENSP00000465570.1:p.Ile33174Asn
ENST00000615779.4:c.99521T>A (TTN)	ENSP00000483597.1:p.Ile33174Asn
NM_001256850.1:c.99521T>A (TTN)	NP_001243779.1:p.Ile33174Asn
NM_001267550.2:c.104444T>A (TTN) MANE Select	NP_001254479.2:p.Ile34815Asn
NM_003319.4:c.77249T>A (TTN)	NP_003310.4:p.Ile25750Asn
NM_133378.4:c.96740T>A (TTN)	NP_596869.4:p.Ile32247Asn
NM_133432.3:c.77624T>A (TTN)	NP_597676.3:p.Ile25875Asn
NM_133437.4:c.77825T>A (TTN)	NP_597681.4:p.Ile25942Asn
NR_038271.1:n.446+8535A>T (TTN-AS1)
NR_038272.1:n.220-3561A>T (TTN-AS1)
XM_011511729.1:c.103541T>A (TTN)	XP_011510031.1:p.Ile34514Asn
XM_011511730.1:c.77435T>A (TTN)	XP_011510032.1:p.Ile25812Asn
XM_011511731.1:c.77294T>A (TTN)	XP_011510033.1:p.Ile25765Asn
XM_017004819.1:c.103337T>A (TTN)	XP_016860308.1:p.Ile34446Asn
XM_017004820.1:c.98735T>A (TTN)	XP_016860309.1:p.Ile32912Asn
XM_017004821.1:c.98732T>A (TTN)	XP_016860310.1:p.Ile32911Asn
XM_017004822.1:c.95774T>A (TTN)	XP_016860311.1:p.Ile31925Asn
XM_017004823.1:c.77390T>A (TTN)	XP_016860312.1:p.Ile25797Asn
XM_024453094.1:c.98885T>A (TTN)	XP_024308862.1:p.Ile32962Asn
XM_024453095.1:c.98882T>A (TTN)	XP_024308863.1:p.Ile32961Asn
XM_024453096.1:c.98315T>A (TTN)	XP_024308864.1:p.Ile32772Asn
XM_024453097.1:c.95657T>A (TTN)	XP_024308865.1:p.Ile31886Asn
XM_024453098.1:c.95576T>A (TTN)	XP_024308866.1:p.Ile31859Asn
XM_024453099.1:c.77339T>A (TTN)	XP_024308867.1:p.Ile25780Asn
XM_024453100.1:c.67193T>A (TTN)	XP_024308868.1:p.Ile22398Asn