Canonical Allele Identifier: CA430269273

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 758820
• ClinVar RCV Id: RCV001492672
• dbSNP Id: rs187366691
• gnomAD v4: 2-178601548-G-C
• MyVariant Identifiers: chr2:g.179466275G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601548G>C , CM000664.2:g.178601548G>C	GRCh38
NC_000002.11:g.179466275G>C , CM000664.1:g.179466275G>C	GRCh37
NC_000002.10:g.179174520G>C	NCBI36
NG_011618.3:g.234255C>G , LRG_391:g.234255C>G
NG_051363.1:g.83722G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47745C>G (TTN)	ENSP00000343764.6:p.Pro15915=
ENST00000342175.11:c.28830C>G (TTN)	ENSP00000340554.6:p.Pro9610=
ENST00000359218.10:c.28629C>G (TTN)	ENSP00000352154.5:p.Pro9543=
ENST00000342175.10:c.28830C>G (TTN)	ENSP00000340554.6:p.Pro9610=
ENST00000342992.10:c.47745C>G (TTN)	ENSP00000343764.6:p.Pro15915=
ENST00000359218.9:c.28629C>G (TTN)	ENSP00000352154.5:p.Pro9543=
ENST00000460472.6:c.28254C>G (TTN)	ENSP00000434586.1:p.Pro9418=
ENST00000589042.5:c.55449C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro18483=
ENST00000591111.5:c.50526C>G (TTN)	ENSP00000465570.1:p.Pro16842=
ENST00000615779.4:c.50526C>G (TTN)	ENSP00000483597.1:p.Pro16842=
NM_001256850.1:c.50526C>G (TTN)	NP_001243779.1:p.Pro16842=
NM_001267550.2:c.55449C>G (TTN) MANE Select	NP_001254479.2:p.Pro18483=
NM_003319.4:c.28254C>G (TTN)	NP_003310.4:p.Pro9418=
NM_133378.4:c.47745C>G (TTN)	NP_596869.4:p.Pro15915=
NM_133432.3:c.28629C>G (TTN)	NP_597676.3:p.Pro9543=
NM_133437.4:c.28830C>G (TTN)	NP_597681.4:p.Pro9610=
NR_038271.1:n.682+3867G>C (TTN-AS1)
NR_038272.1:n.3917+881G>C (TTN-AS1)
XM_011511729.1:c.54546C>G (TTN)	XP_011510031.1:p.Pro18182=
XM_011511730.1:c.28440C>G (TTN)	XP_011510032.1:p.Pro9480=
XM_011511731.1:c.28299C>G (TTN)	XP_011510033.1:p.Pro9433=
XM_017004819.1:c.54342C>G (TTN)	XP_016860308.1:p.Pro18114=
XM_017004820.1:c.49740C>G (TTN)	XP_016860309.1:p.Pro16580=
XM_017004821.1:c.49737C>G (TTN)	XP_016860310.1:p.Pro16579=
XM_017004822.1:c.46779C>G (TTN)	XP_016860311.1:p.Pro15593=
XM_017004823.1:c.28395C>G (TTN)	XP_016860312.1:p.Pro9465=
XM_024453094.1:c.49890C>G (TTN)	XP_024308862.1:p.Pro16630=
XM_024453095.1:c.49887C>G (TTN)	XP_024308863.1:p.Pro16629=
XM_024453096.1:c.49320C>G (TTN)	XP_024308864.1:p.Pro16440=
XM_024453097.1:c.46662C>G (TTN)	XP_024308865.1:p.Pro15554=
XM_024453098.1:c.46581C>G (TTN)	XP_024308866.1:p.Pro15527=
XM_024453099.1:c.28344C>G (TTN)	XP_024308867.1:p.Pro9448=
XM_024453100.1:c.18198C>G (TTN)	XP_024308868.1:p.Pro6066=