Canonical Allele Identifier: CA430247682

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178557802-C-T
• MyVariant Identifiers: chr2:g.179422529C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557802C>T , CM000664.2:g.178557802C>T	GRCh38
NC_000002.11:g.179422529C>T , CM000664.1:g.179422529C>T	GRCh37
NC_000002.10:g.179130775C>T	NCBI36
NG_011618.3:g.278001G>A , LRG_391:g.278001G>A
NG_051363.1:g.39976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79848G>A (TTN)	ENSP00000343764.6:p.Val26616=
ENST00000342175.11:c.60933G>A (TTN)	ENSP00000340554.6:p.Val20311=
ENST00000359218.10:c.60732G>A (TTN)	ENSP00000352154.5:p.Val20244=
ENST00000342175.10:c.60933G>A (TTN)	ENSP00000340554.6:p.Val20311=
ENST00000342992.10:c.79848G>A (TTN)	ENSP00000343764.6:p.Val26616=
ENST00000359218.9:c.60732G>A (TTN)	ENSP00000352154.5:p.Val20244=
ENST00000460472.6:c.60357G>A (TTN)	ENSP00000434586.1:p.Val20119=
ENST00000589042.5:c.87552G>A (TTN) MANE Select	ENSP00000467141.1:p.Val29184=
ENST00000591111.5:c.82629G>A (TTN)	ENSP00000465570.1:p.Val27543=
ENST00000615779.4:c.82629G>A (TTN)	ENSP00000483597.1:p.Val27543=
NM_001256850.1:c.82629G>A (TTN)	NP_001243779.1:p.Val27543=
NM_001267550.2:c.87552G>A (TTN) MANE Select	NP_001254479.2:p.Val29184=
NM_003319.4:c.60357G>A (TTN)	NP_003310.4:p.Val20119=
NM_133378.4:c.79848G>A (TTN)	NP_596869.4:p.Val26616=
NM_133432.3:c.60732G>A (TTN)	NP_597676.3:p.Val20244=
NM_133437.4:c.60933G>A (TTN)	NP_597681.4:p.Val20311=
NR_038271.1:n.447-13498C>T (TTN-AS1)
NR_038272.1:n.2043+15441C>T (TTN-AS1)
XM_011511729.1:c.86649G>A (TTN)	XP_011510031.1:p.Val28883=
XM_011511730.1:c.60543G>A (TTN)	XP_011510032.1:p.Val20181=
XM_011511731.1:c.60402G>A (TTN)	XP_011510033.1:p.Val20134=
XM_017004819.1:c.86445G>A (TTN)	XP_016860308.1:p.Val28815=
XM_017004820.1:c.81843G>A (TTN)	XP_016860309.1:p.Val27281=
XM_017004821.1:c.81840G>A (TTN)	XP_016860310.1:p.Val27280=
XM_017004822.1:c.78882G>A (TTN)	XP_016860311.1:p.Val26294=
XM_017004823.1:c.60498G>A (TTN)	XP_016860312.1:p.Val20166=
XM_024453094.1:c.81993G>A (TTN)	XP_024308862.1:p.Val27331=
XM_024453095.1:c.81990G>A (TTN)	XP_024308863.1:p.Val27330=
XM_024453096.1:c.81423G>A (TTN)	XP_024308864.1:p.Val27141=
XM_024453097.1:c.78765G>A (TTN)	XP_024308865.1:p.Val26255=
XM_024453098.1:c.78684G>A (TTN)	XP_024308866.1:p.Val26228=
XM_024453099.1:c.60447G>A (TTN)	XP_024308867.1:p.Val20149=
XM_024453100.1:c.50301G>A (TTN)	XP_024308868.1:p.Val16767=