Canonical Allele Identifier: CA349471605

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1219078324
• gnomAD v2: 2-179411501-C-G
• gnomAD v4: 2-178546774-C-G
• MyVariant Identifiers: chr2:g.179411501C>G (hg19) ; chr2:g.178546774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546774C>G , CM000664.2:g.178546774C>G	GRCh38
NC_000002.11:g.179411501C>G , CM000664.1:g.179411501C>G	GRCh37
NC_000002.10:g.179119747C>G	NCBI36
NG_011618.3:g.289029G>C , LRG_391:g.289029G>C
NG_051363.1:g.28948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86950G>C (TTN)	ENSP00000343764.6:p.Gly28984Arg
ENST00000342175.11:c.68035G>C (TTN)	ENSP00000340554.6:p.Gly22679Arg
ENST00000359218.10:c.67834G>C (TTN)	ENSP00000352154.5:p.Gly22612Arg
ENST00000342175.10:c.68035G>C (TTN)	ENSP00000340554.6:p.Gly22679Arg
ENST00000342992.10:c.86950G>C (TTN)	ENSP00000343764.6:p.Gly28984Arg
ENST00000359218.9:c.67834G>C (TTN)	ENSP00000352154.5:p.Gly22612Arg
ENST00000460472.6:c.67459G>C (TTN)	ENSP00000434586.1:p.Gly22487Arg
ENST00000589042.5:c.94654G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly31552Arg
ENST00000591111.5:c.89731G>C (TTN)	ENSP00000465570.1:p.Gly29911Arg
ENST00000615779.4:c.89731G>C (TTN)	ENSP00000483597.1:p.Gly29911Arg
NM_001256850.1:c.89731G>C (TTN)	NP_001243779.1:p.Gly29911Arg
NM_001267550.2:c.94654G>C (TTN) MANE Select	NP_001254479.2:p.Gly31552Arg
NM_003319.4:c.67459G>C (TTN)	NP_003310.4:p.Gly22487Arg
NM_133378.4:c.86950G>C (TTN)	NP_596869.4:p.Gly28984Arg
NM_133432.3:c.67834G>C (TTN)	NP_597676.3:p.Gly22612Arg
NM_133437.4:c.68035G>C (TTN)	NP_597681.4:p.Gly22679Arg
NR_038271.1:n.446+23138C>G (TTN-AS1)
NR_038272.1:n.2043+4413C>G (TTN-AS1)
XM_011511729.1:c.93751G>C (TTN)	XP_011510031.1:p.Gly31251Arg
XM_011511730.1:c.67645G>C (TTN)	XP_011510032.1:p.Gly22549Arg
XM_011511731.1:c.67504G>C (TTN)	XP_011510033.1:p.Gly22502Arg
XM_017004819.1:c.93547G>C (TTN)	XP_016860308.1:p.Gly31183Arg
XM_017004820.1:c.88945G>C (TTN)	XP_016860309.1:p.Gly29649Arg
XM_017004821.1:c.88942G>C (TTN)	XP_016860310.1:p.Gly29648Arg
XM_017004822.1:c.85984G>C (TTN)	XP_016860311.1:p.Gly28662Arg
XM_017004823.1:c.67600G>C (TTN)	XP_016860312.1:p.Gly22534Arg
XM_024453094.1:c.89095G>C (TTN)	XP_024308862.1:p.Gly29699Arg
XM_024453095.1:c.89092G>C (TTN)	XP_024308863.1:p.Gly29698Arg
XM_024453096.1:c.88525G>C (TTN)	XP_024308864.1:p.Gly29509Arg
XM_024453097.1:c.85867G>C (TTN)	XP_024308865.1:p.Gly28623Arg
XM_024453098.1:c.85786G>C (TTN)	XP_024308866.1:p.Gly28596Arg
XM_024453099.1:c.67549G>C (TTN)	XP_024308867.1:p.Gly22517Arg
XM_024453100.1:c.57403G>C (TTN)	XP_024308868.1:p.Gly19135Arg