Canonical Allele Identifier: CA349479326

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178590915-A-C
• MyVariant Identifiers: chr2:g.179455642A>C (hg19) ; chr2:g.178590915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590915A>C , CM000664.2:g.178590915A>C	GRCh38
NC_000002.11:g.179455642A>C , CM000664.1:g.179455642A>C	GRCh37
NC_000002.10:g.179163888A>C	NCBI36
NG_011618.3:g.244888T>G , LRG_391:g.244888T>G
NG_051363.1:g.73089A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53106T>G (TTN)	ENSP00000343764.6:p.Ser17702Arg
ENST00000342175.11:c.34191T>G (TTN)	ENSP00000340554.6:p.Ser11397Arg
ENST00000359218.10:c.33990T>G (TTN)	ENSP00000352154.5:p.Ser11330Arg
ENST00000342175.10:c.34191T>G (TTN)	ENSP00000340554.6:p.Ser11397Arg
ENST00000342992.10:c.53106T>G (TTN)	ENSP00000343764.6:p.Ser17702Arg
ENST00000359218.9:c.33990T>G (TTN)	ENSP00000352154.5:p.Ser11330Arg
ENST00000460472.6:c.33615T>G (TTN)	ENSP00000434586.1:p.Ser11205Arg
ENST00000589042.5:c.60810T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser20270Arg
ENST00000591111.5:c.55887T>G (TTN)	ENSP00000465570.1:p.Ser18629Arg
ENST00000615779.4:c.55887T>G (TTN)	ENSP00000483597.1:p.Ser18629Arg
NM_001256850.1:c.55887T>G (TTN)	NP_001243779.1:p.Ser18629Arg
NM_001267550.2:c.60810T>G (TTN) MANE Select	NP_001254479.2:p.Ser20270Arg
NM_003319.4:c.33615T>G (TTN)	NP_003310.4:p.Ser11205Arg
NM_133378.4:c.53106T>G (TTN)	NP_596869.4:p.Ser17702Arg
NM_133432.3:c.33990T>G (TTN)	NP_597676.3:p.Ser11330Arg
NM_133437.4:c.34191T>G (TTN)	NP_597681.4:p.Ser11397Arg
NR_038271.1:n.597-6681A>C (TTN-AS1)
NR_038272.1:n.3189-224A>C (TTN-AS1)
XM_011511729.1:c.59907T>G (TTN)	XP_011510031.1:p.Ser19969Arg
XM_011511730.1:c.33801T>G (TTN)	XP_011510032.1:p.Ser11267Arg
XM_011511731.1:c.33660T>G (TTN)	XP_011510033.1:p.Ser11220Arg
XM_017004819.1:c.59703T>G (TTN)	XP_016860308.1:p.Ser19901Arg
XM_017004820.1:c.55101T>G (TTN)	XP_016860309.1:p.Ser18367Arg
XM_017004821.1:c.55098T>G (TTN)	XP_016860310.1:p.Ser18366Arg
XM_017004822.1:c.52140T>G (TTN)	XP_016860311.1:p.Ser17380Arg
XM_017004823.1:c.33756T>G (TTN)	XP_016860312.1:p.Ser11252Arg
XM_024453094.1:c.55251T>G (TTN)	XP_024308862.1:p.Ser18417Arg
XM_024453095.1:c.55248T>G (TTN)	XP_024308863.1:p.Ser18416Arg
XM_024453096.1:c.54681T>G (TTN)	XP_024308864.1:p.Ser18227Arg
XM_024453097.1:c.52023T>G (TTN)	XP_024308865.1:p.Ser17341Arg
XM_024453098.1:c.51942T>G (TTN)	XP_024308866.1:p.Ser17314Arg
XM_024453099.1:c.33705T>G (TTN)	XP_024308867.1:p.Ser11235Arg
XM_024453100.1:c.23559T>G (TTN)	XP_024308868.1:p.Ser7853Arg