Canonical Allele Identifier: CA349451237

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543929-A-C
• MyVariant Identifiers: chr2:g.179408656A>C (hg19) ; chr2:g.178543929A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543929A>C , CM000664.2:g.178543929A>C	GRCh38
NC_000002.11:g.179408656A>C , CM000664.1:g.179408656A>C	GRCh37
NC_000002.10:g.179116902A>C	NCBI36
NG_011618.3:g.291874T>G , LRG_391:g.291874T>G
NG_051363.1:g.26103A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88511T>G (TTN)	ENSP00000343764.6:p.Val29504Gly
ENST00000342175.11:c.69596T>G (TTN)	ENSP00000340554.6:p.Val23199Gly
ENST00000359218.10:c.69395T>G (TTN)	ENSP00000352154.5:p.Val23132Gly
ENST00000342175.10:c.69596T>G (TTN)	ENSP00000340554.6:p.Val23199Gly
ENST00000342992.10:c.88511T>G (TTN)	ENSP00000343764.6:p.Val29504Gly
ENST00000359218.9:c.69395T>G (TTN)	ENSP00000352154.5:p.Val23132Gly
ENST00000460472.6:c.69020T>G (TTN)	ENSP00000434586.1:p.Val23007Gly
ENST00000589042.5:c.96215T>G (TTN) MANE Select	ENSP00000467141.1:p.Val32072Gly
ENST00000591111.5:c.91292T>G (TTN)	ENSP00000465570.1:p.Val30431Gly
ENST00000615779.4:c.91292T>G (TTN)	ENSP00000483597.1:p.Val30431Gly
NM_001256850.1:c.91292T>G (TTN)	NP_001243779.1:p.Val30431Gly
NM_001267550.2:c.96215T>G (TTN) MANE Select	NP_001254479.2:p.Val32072Gly
NM_003319.4:c.69020T>G (TTN)	NP_003310.4:p.Val23007Gly
NM_133378.4:c.88511T>G (TTN)	NP_596869.4:p.Val29504Gly
NM_133432.3:c.69395T>G (TTN)	NP_597676.3:p.Val23132Gly
NM_133437.4:c.69596T>G (TTN)	NP_597681.4:p.Val23199Gly
NR_038271.1:n.446+20293A>C (TTN-AS1)
NR_038272.1:n.2043+1568A>C (TTN-AS1)
XM_011511729.1:c.95312T>G (TTN)	XP_011510031.1:p.Val31771Gly
XM_011511730.1:c.69206T>G (TTN)	XP_011510032.1:p.Val23069Gly
XM_011511731.1:c.69065T>G (TTN)	XP_011510033.1:p.Val23022Gly
XM_017004819.1:c.95108T>G (TTN)	XP_016860308.1:p.Val31703Gly
XM_017004820.1:c.90506T>G (TTN)	XP_016860309.1:p.Val30169Gly
XM_017004821.1:c.90503T>G (TTN)	XP_016860310.1:p.Val30168Gly
XM_017004822.1:c.87545T>G (TTN)	XP_016860311.1:p.Val29182Gly
XM_017004823.1:c.69161T>G (TTN)	XP_016860312.1:p.Val23054Gly
XM_024453094.1:c.90656T>G (TTN)	XP_024308862.1:p.Val30219Gly
XM_024453095.1:c.90653T>G (TTN)	XP_024308863.1:p.Val30218Gly
XM_024453096.1:c.90086T>G (TTN)	XP_024308864.1:p.Val30029Gly
XM_024453097.1:c.87428T>G (TTN)	XP_024308865.1:p.Val29143Gly
XM_024453098.1:c.87347T>G (TTN)	XP_024308866.1:p.Val29116Gly
XM_024453099.1:c.69110T>G (TTN)	XP_024308867.1:p.Val23037Gly
XM_024453100.1:c.58964T>G (TTN)	XP_024308868.1:p.Val19655Gly