Canonical Allele Identifier: CA430269358

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178602346-G-C
• MyVariant Identifiers: chr2:g.179467073G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602346G>C , CM000664.2:g.178602346G>C	GRCh38
NC_000002.11:g.179467073G>C , CM000664.1:g.179467073G>C	GRCh37
NC_000002.10:g.179175318G>C	NCBI36
NG_011618.3:g.233457C>G , LRG_391:g.233457C>G
NG_051363.1:g.84520G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47352C>G (TTN)	ENSP00000343764.6:p.Val15784=
ENST00000342175.11:c.28437C>G (TTN)	ENSP00000340554.6:p.Val9479=
ENST00000359218.10:c.28236C>G (TTN)	ENSP00000352154.5:p.Val9412=
ENST00000342175.10:c.28437C>G (TTN)	ENSP00000340554.6:p.Val9479=
ENST00000342992.10:c.47352C>G (TTN)	ENSP00000343764.6:p.Val15784=
ENST00000359218.9:c.28236C>G (TTN)	ENSP00000352154.5:p.Val9412=
ENST00000460472.6:c.27861C>G (TTN)	ENSP00000434586.1:p.Val9287=
ENST00000589042.5:c.55056C>G (TTN) MANE Select	ENSP00000467141.1:p.Val18352=
ENST00000591111.5:c.50133C>G (TTN)	ENSP00000465570.1:p.Val16711=
ENST00000615779.4:c.50133C>G (TTN)	ENSP00000483597.1:p.Val16711=
NM_001256850.1:c.50133C>G (TTN)	NP_001243779.1:p.Val16711=
NM_001267550.2:c.55056C>G (TTN) MANE Select	NP_001254479.2:p.Val18352=
NM_003319.4:c.27861C>G (TTN)	NP_003310.4:p.Val9287=
NM_133378.4:c.47352C>G (TTN)	NP_596869.4:p.Val15784=
NM_133432.3:c.28236C>G (TTN)	NP_597676.3:p.Val9412=
NM_133437.4:c.28437C>G (TTN)	NP_597681.4:p.Val9479=
NR_038271.1:n.682+4665G>C (TTN-AS1)
NR_038272.1:n.3917+1679G>C (TTN-AS1)
XM_011511729.1:c.54153C>G (TTN)	XP_011510031.1:p.Val18051=
XM_011511730.1:c.28047C>G (TTN)	XP_011510032.1:p.Val9349=
XM_011511731.1:c.27906C>G (TTN)	XP_011510033.1:p.Val9302=
XM_017004819.1:c.53949C>G (TTN)	XP_016860308.1:p.Val17983=
XM_017004820.1:c.49347C>G (TTN)	XP_016860309.1:p.Val16449=
XM_017004821.1:c.49344C>G (TTN)	XP_016860310.1:p.Val16448=
XM_017004822.1:c.46386C>G (TTN)	XP_016860311.1:p.Val15462=
XM_017004823.1:c.28002C>G (TTN)	XP_016860312.1:p.Val9334=
XM_024453094.1:c.49497C>G (TTN)	XP_024308862.1:p.Val16499=
XM_024453095.1:c.49494C>G (TTN)	XP_024308863.1:p.Val16498=
XM_024453096.1:c.48927C>G (TTN)	XP_024308864.1:p.Val16309=
XM_024453097.1:c.46269C>G (TTN)	XP_024308865.1:p.Val15423=
XM_024453098.1:c.46188C>G (TTN)	XP_024308866.1:p.Val15396=
XM_024453099.1:c.27951C>G (TTN)	XP_024308867.1:p.Val9317=
XM_024453100.1:c.17805C>G (TTN)	XP_024308868.1:p.Val5935=