Canonical Allele Identifier: CA349471602

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546773-C-G
• MyVariant Identifiers: chr2:g.179411500C>G (hg19) ; chr2:g.178546773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546773C>G , CM000664.2:g.178546773C>G	GRCh38
NC_000002.11:g.179411500C>G , CM000664.1:g.179411500C>G	GRCh37
NC_000002.10:g.179119746C>G	NCBI36
NG_011618.3:g.289030G>C , LRG_391:g.289030G>C
NG_051363.1:g.28947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86951G>C (TTN)	ENSP00000343764.6:p.Gly28984Ala
ENST00000342175.11:c.68036G>C (TTN)	ENSP00000340554.6:p.Gly22679Ala
ENST00000359218.10:c.67835G>C (TTN)	ENSP00000352154.5:p.Gly22612Ala
ENST00000342175.10:c.68036G>C (TTN)	ENSP00000340554.6:p.Gly22679Ala
ENST00000342992.10:c.86951G>C (TTN)	ENSP00000343764.6:p.Gly28984Ala
ENST00000359218.9:c.67835G>C (TTN)	ENSP00000352154.5:p.Gly22612Ala
ENST00000460472.6:c.67460G>C (TTN)	ENSP00000434586.1:p.Gly22487Ala
ENST00000589042.5:c.94655G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly31552Ala
ENST00000591111.5:c.89732G>C (TTN)	ENSP00000465570.1:p.Gly29911Ala
ENST00000615779.4:c.89732G>C (TTN)	ENSP00000483597.1:p.Gly29911Ala
NM_001256850.1:c.89732G>C (TTN)	NP_001243779.1:p.Gly29911Ala
NM_001267550.2:c.94655G>C (TTN) MANE Select	NP_001254479.2:p.Gly31552Ala
NM_003319.4:c.67460G>C (TTN)	NP_003310.4:p.Gly22487Ala
NM_133378.4:c.86951G>C (TTN)	NP_596869.4:p.Gly28984Ala
NM_133432.3:c.67835G>C (TTN)	NP_597676.3:p.Gly22612Ala
NM_133437.4:c.68036G>C (TTN)	NP_597681.4:p.Gly22679Ala
NR_038271.1:n.446+23137C>G (TTN-AS1)
NR_038272.1:n.2043+4412C>G (TTN-AS1)
XM_011511729.1:c.93752G>C (TTN)	XP_011510031.1:p.Gly31251Ala
XM_011511730.1:c.67646G>C (TTN)	XP_011510032.1:p.Gly22549Ala
XM_011511731.1:c.67505G>C (TTN)	XP_011510033.1:p.Gly22502Ala
XM_017004819.1:c.93548G>C (TTN)	XP_016860308.1:p.Gly31183Ala
XM_017004820.1:c.88946G>C (TTN)	XP_016860309.1:p.Gly29649Ala
XM_017004821.1:c.88943G>C (TTN)	XP_016860310.1:p.Gly29648Ala
XM_017004822.1:c.85985G>C (TTN)	XP_016860311.1:p.Gly28662Ala
XM_017004823.1:c.67601G>C (TTN)	XP_016860312.1:p.Gly22534Ala
XM_024453094.1:c.89096G>C (TTN)	XP_024308862.1:p.Gly29699Ala
XM_024453095.1:c.89093G>C (TTN)	XP_024308863.1:p.Gly29698Ala
XM_024453096.1:c.88526G>C (TTN)	XP_024308864.1:p.Gly29509Ala
XM_024453097.1:c.85868G>C (TTN)	XP_024308865.1:p.Gly28623Ala
XM_024453098.1:c.85787G>C (TTN)	XP_024308866.1:p.Gly28596Ala
XM_024453099.1:c.67550G>C (TTN)	XP_024308867.1:p.Gly22517Ala
XM_024453100.1:c.57404G>C (TTN)	XP_024308868.1:p.Gly19135Ala