Canonical Allele Identifier: CA349400686

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178527623-A-G
• MyVariant Identifiers: chr2:g.179392350A>G (hg19) ; chr2:g.178527623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527623A>G , CM000664.2:g.178527623A>G	GRCh38
NC_000002.11:g.179392350A>G , CM000664.1:g.179392350A>G	GRCh37
NC_000002.10:g.179100596A>G	NCBI36
NG_011618.3:g.308180T>C , LRG_391:g.308180T>C
NG_051363.1:g.9797A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.99799T>C (TTN)	ENSP00000343764.6:p.Phe33267Leu
ENST00000342175.11:c.80884T>C (TTN)	ENSP00000340554.6:p.Phe26962Leu
ENST00000359218.10:c.80683T>C (TTN)	ENSP00000352154.5:p.Phe26895Leu
ENST00000342175.10:c.80884T>C (TTN)	ENSP00000340554.6:p.Phe26962Leu
ENST00000342992.10:c.99799T>C (TTN)	ENSP00000343764.6:p.Phe33267Leu
ENST00000359218.9:c.80683T>C (TTN)	ENSP00000352154.5:p.Phe26895Leu
ENST00000460472.6:c.80308T>C (TTN)	ENSP00000434586.1:p.Phe26770Leu
ENST00000589042.5:c.107503T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe35835Leu
ENST00000591111.5:c.102580T>C (TTN)	ENSP00000465570.1:p.Phe34194Leu
ENST00000615779.4:c.102580T>C (TTN)	ENSP00000483597.1:p.Phe34194Leu
NM_001256850.1:c.102580T>C (TTN)	NP_001243779.1:p.Phe34194Leu
NM_001267550.2:c.107503T>C (TTN) MANE Select	NP_001254479.2:p.Phe35835Leu
NM_003319.4:c.80308T>C (TTN)	NP_003310.4:p.Phe26770Leu
NM_133378.4:c.99799T>C (TTN)	NP_596869.4:p.Phe33267Leu
NM_133432.3:c.80683T>C (TTN)	NP_597676.3:p.Phe26895Leu
NM_133437.4:c.80884T>C (TTN)	NP_597681.4:p.Phe26962Leu
NR_038271.1:n.446+3987A>G (TTN-AS1)
NR_038272.1:n.219+3987A>G (TTN-AS1)
XM_011511729.1:c.106600T>C (TTN)	XP_011510031.1:p.Phe35534Leu
XM_011511730.1:c.80494T>C (TTN)	XP_011510032.1:p.Phe26832Leu
XM_011511731.1:c.80353T>C (TTN)	XP_011510033.1:p.Phe26785Leu
XM_017004819.1:c.106396T>C (TTN)	XP_016860308.1:p.Phe35466Leu
XM_017004820.1:c.101794T>C (TTN)	XP_016860309.1:p.Phe33932Leu
XM_017004821.1:c.101791T>C (TTN)	XP_016860310.1:p.Phe33931Leu
XM_017004822.1:c.98833T>C (TTN)	XP_016860311.1:p.Phe32945Leu
XM_017004823.1:c.80449T>C (TTN)	XP_016860312.1:p.Phe26817Leu
XM_024453094.1:c.101944T>C (TTN)	XP_024308862.1:p.Phe33982Leu
XM_024453095.1:c.101941T>C (TTN)	XP_024308863.1:p.Phe33981Leu
XM_024453096.1:c.101374T>C (TTN)	XP_024308864.1:p.Phe33792Leu
XM_024453097.1:c.98716T>C (TTN)	XP_024308865.1:p.Phe32906Leu
XM_024453098.1:c.98635T>C (TTN)	XP_024308866.1:p.Phe32879Leu
XM_024453099.1:c.80398T>C (TTN)	XP_024308867.1:p.Phe26800Leu
XM_024453100.1:c.70252T>C (TTN)	XP_024308868.1:p.Phe23418Leu