Canonical Allele Identifier: CA430244876

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549862-T-C
• MyVariant Identifiers: chr2:g.179414589T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549862T>C , CM000664.2:g.178549862T>C	GRCh38
NC_000002.11:g.179414589T>C , CM000664.1:g.179414589T>C	GRCh37
NC_000002.10:g.179122835T>C	NCBI36
NG_011618.3:g.285941A>G , LRG_391:g.285941A>G
NG_051363.1:g.32036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84156A>G (TTN)	ENSP00000343764.6:p.Pro28052=
ENST00000342175.11:c.65241A>G (TTN)	ENSP00000340554.6:p.Pro21747=
ENST00000359218.10:c.65040A>G (TTN)	ENSP00000352154.5:p.Pro21680=
ENST00000342175.10:c.65241A>G (TTN)	ENSP00000340554.6:p.Pro21747=
ENST00000342992.10:c.84156A>G (TTN)	ENSP00000343764.6:p.Pro28052=
ENST00000359218.9:c.65040A>G (TTN)	ENSP00000352154.5:p.Pro21680=
ENST00000460472.6:c.64665A>G (TTN)	ENSP00000434586.1:p.Pro21555=
ENST00000589042.5:c.91860A>G (TTN) MANE Select	ENSP00000467141.1:p.Pro30620=
ENST00000591111.5:c.86937A>G (TTN)	ENSP00000465570.1:p.Pro28979=
ENST00000615779.4:c.86937A>G (TTN)	ENSP00000483597.1:p.Pro28979=
NM_001256850.1:c.86937A>G (TTN)	NP_001243779.1:p.Pro28979=
NM_001267550.2:c.91860A>G (TTN) MANE Select	NP_001254479.2:p.Pro30620=
NM_003319.4:c.64665A>G (TTN)	NP_003310.4:p.Pro21555=
NM_133378.4:c.84156A>G (TTN)	NP_596869.4:p.Pro28052=
NM_133432.3:c.65040A>G (TTN)	NP_597676.3:p.Pro21680=
NM_133437.4:c.65241A>G (TTN)	NP_597681.4:p.Pro21747=
NR_038271.1:n.447-21438T>C (TTN-AS1)
NR_038272.1:n.2043+7501T>C (TTN-AS1)
XM_011511729.1:c.90957A>G (TTN)	XP_011510031.1:p.Pro30319=
XM_011511730.1:c.64851A>G (TTN)	XP_011510032.1:p.Pro21617=
XM_011511731.1:c.64710A>G (TTN)	XP_011510033.1:p.Pro21570=
XM_017004819.1:c.90753A>G (TTN)	XP_016860308.1:p.Pro30251=
XM_017004820.1:c.86151A>G (TTN)	XP_016860309.1:p.Pro28717=
XM_017004821.1:c.86148A>G (TTN)	XP_016860310.1:p.Pro28716=
XM_017004822.1:c.83190A>G (TTN)	XP_016860311.1:p.Pro27730=
XM_017004823.1:c.64806A>G (TTN)	XP_016860312.1:p.Pro21602=
XM_024453094.1:c.86301A>G (TTN)	XP_024308862.1:p.Pro28767=
XM_024453095.1:c.86298A>G (TTN)	XP_024308863.1:p.Pro28766=
XM_024453096.1:c.85731A>G (TTN)	XP_024308864.1:p.Pro28577=
XM_024453097.1:c.83073A>G (TTN)	XP_024308865.1:p.Pro27691=
XM_024453098.1:c.82992A>G (TTN)	XP_024308866.1:p.Pro27664=
XM_024453099.1:c.64755A>G (TTN)	XP_024308867.1:p.Pro21585=
XM_024453100.1:c.54609A>G (TTN)	XP_024308868.1:p.Pro18203=