Canonical Allele Identifier: CA538435261

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1169058061
• gnomAD v2: 2-179422332-TGG-T
• gnomAD v4: 2-178557605-TGG-T
• MyVariant Identifiers: chr2:g.179422333_179422334del (hg19) ; chr2:g.178557606_178557607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557606_178557607del , CM000664.2:g.178557606_178557607del	GRCh38
NC_000002.11:g.179422333_179422334del , CM000664.1:g.179422333_179422334del	GRCh37
NC_000002.10:g.179130579_179130580del	NCBI36
NG_011618.3:g.278196_278197del , LRG_391:g.278196_278197del
NG_051363.1:g.39780_39781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.80002+41_80002+42del (TTN)	ENSP00000343764.6:n.80002+41_80002+42del
ENST00000342175.11:c.61087+41_61087+42del (TTN)	ENSP00000340554.6:n.61087+41_61087+42del
ENST00000359218.10:c.60886+41_60886+42del (TTN)	ENSP00000352154.5:n.60886+41_60886+42del
ENST00000342175.10:c.61087+41_61087+42del (TTN)	ENSP00000340554.6:n.61087+41_61087+42del
ENST00000342992.10:c.80002+41_80002+42del (TTN)	ENSP00000343764.6:n.80002+41_80002+42del
ENST00000359218.9:c.60886+41_60886+42del (TTN)	ENSP00000352154.5:n.60886+41_60886+42del
ENST00000460472.6:c.60511+41_60511+42del (TTN)	ENSP00000434586.1:n.60511+41_60511+42del
ENST00000589042.5:c.87706+41_87706+42del (TTN) MANE Select	ENSP00000467141.1:n.87706+41_87706+42del
ENST00000591111.5:c.82783+41_82783+42del (TTN)	ENSP00000465570.1:n.82783+41_82783+42del
ENST00000615779.4:c.82783+41_82783+42del (TTN)	ENSP00000483597.1:n.82783+41_82783+42del
NM_001256850.1:c.82783+41_82783+42del (TTN)	NP_001243779.1:n.82783+41_82783+42del
NM_001267550.2:c.87706+41_87706+42del (TTN) MANE Select	NP_001254479.2:n.87706+41_87706+42del
NM_003319.4:c.60511+41_60511+42del (TTN)	NP_003310.4:n.60511+41_60511+42del
NM_133378.4:c.80002+41_80002+42del (TTN)	NP_596869.4:n.80002+41_80002+42del
NM_133432.3:c.60886+41_60886+42del (TTN)	NP_597676.3:n.60886+41_60886+42del
NM_133437.4:c.61087+41_61087+42del (TTN)	NP_597681.4:n.61087+41_61087+42del
NR_038271.1:n.447-13694_447-13693del (TTN-AS1)
NR_038272.1:n.2043+15245_2043+15246del (TTN-AS1)
XM_011511729.1:c.86803+41_86803+42del (TTN)	XP_011510031.1:n.86803+41_86803+42del
XM_011511730.1:c.60697+41_60697+42del (TTN)	XP_011510032.1:n.60697+41_60697+42del
XM_011511731.1:c.60556+41_60556+42del (TTN)	XP_011510033.1:n.60556+41_60556+42del
XM_017004819.1:c.86599+41_86599+42del (TTN)	XP_016860308.1:n.86599+41_86599+42del
XM_017004820.1:c.81997+41_81997+42del (TTN)	XP_016860309.1:n.81997+41_81997+42del
XM_017004821.1:c.81994+41_81994+42del (TTN)	XP_016860310.1:n.81994+41_81994+42del
XM_017004822.1:c.79036+41_79036+42del (TTN)	XP_016860311.1:n.79036+41_79036+42del
XM_017004823.1:c.60652+41_60652+42del (TTN)	XP_016860312.1:n.60652+41_60652+42del
XM_024453094.1:c.82147+41_82147+42del (TTN)	XP_024308862.1:n.82147+41_82147+42del
XM_024453095.1:c.82144+41_82144+42del (TTN)	XP_024308863.1:n.82144+41_82144+42del
XM_024453096.1:c.81577+41_81577+42del (TTN)	XP_024308864.1:n.81577+41_81577+42del
XM_024453097.1:c.78919+41_78919+42del (TTN)	XP_024308865.1:n.78919+41_78919+42del
XM_024453098.1:c.78838+41_78838+42del (TTN)	XP_024308866.1:n.78838+41_78838+42del
XM_024453099.1:c.60601+41_60601+42del (TTN)	XP_024308867.1:n.60601+41_60601+42del
XM_024453100.1:c.50455+41_50455+42del (TTN)	XP_024308868.1:n.50455+41_50455+42del