Canonical Allele Identifier: CA349405217

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs754163825
• gnomAD v3: 2-178530040-G-A
• gnomAD v4: 2-178530040-G-A
• MyVariant Identifiers: chr2:g.179394767G>A (hg19) ; chr2:g.178530040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530040G>A , CM000664.2:g.178530040G>A	GRCh38
NC_000002.11:g.179394767G>A , CM000664.1:g.179394767G>A	GRCh37
NC_000002.10:g.179103013G>A	NCBI36
NG_011618.3:g.305763C>T , LRG_391:g.305763C>T
NG_051363.1:g.12214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98747C>T (TTN)	ENSP00000343764.6:p.Thr32916Ile
ENST00000342175.11:c.79832C>T (TTN)	ENSP00000340554.6:p.Thr26611Ile
ENST00000359218.10:c.79631C>T (TTN)	ENSP00000352154.5:p.Thr26544Ile
ENST00000342175.10:c.79832C>T (TTN)	ENSP00000340554.6:p.Thr26611Ile
ENST00000342992.10:c.98747C>T (TTN)	ENSP00000343764.6:p.Thr32916Ile
ENST00000359218.9:c.79631C>T (TTN)	ENSP00000352154.5:p.Thr26544Ile
ENST00000460472.6:c.79256C>T (TTN)	ENSP00000434586.1:p.Thr26419Ile
ENST00000589042.5:c.106451C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35484Ile
ENST00000591111.5:c.101528C>T (TTN)	ENSP00000465570.1:p.Thr33843Ile
ENST00000615779.4:c.101528C>T (TTN)	ENSP00000483597.1:p.Thr33843Ile
NM_001256850.1:c.101528C>T (TTN)	NP_001243779.1:p.Thr33843Ile
NM_001267550.2:c.106451C>T (TTN) MANE Select	NP_001254479.2:p.Thr35484Ile
NM_003319.4:c.79256C>T (TTN)	NP_003310.4:p.Thr26419Ile
NM_133378.4:c.98747C>T (TTN)	NP_596869.4:p.Thr32916Ile
NM_133432.3:c.79631C>T (TTN)	NP_597676.3:p.Thr26544Ile
NM_133437.4:c.79832C>T (TTN)	NP_597681.4:p.Thr26611Ile
NR_038271.1:n.446+6404G>A (TTN-AS1)
NR_038272.1:n.220-5692G>A (TTN-AS1)
XM_011511729.1:c.105548C>T (TTN)	XP_011510031.1:p.Thr35183Ile
XM_011511730.1:c.79442C>T (TTN)	XP_011510032.1:p.Thr26481Ile
XM_011511731.1:c.79301C>T (TTN)	XP_011510033.1:p.Thr26434Ile
XM_017004819.1:c.105344C>T (TTN)	XP_016860308.1:p.Thr35115Ile
XM_017004820.1:c.100742C>T (TTN)	XP_016860309.1:p.Thr33581Ile
XM_017004821.1:c.100739C>T (TTN)	XP_016860310.1:p.Thr33580Ile
XM_017004822.1:c.97781C>T (TTN)	XP_016860311.1:p.Thr32594Ile
XM_017004823.1:c.79397C>T (TTN)	XP_016860312.1:p.Thr26466Ile
XM_024453094.1:c.100892C>T (TTN)	XP_024308862.1:p.Thr33631Ile
XM_024453095.1:c.100889C>T (TTN)	XP_024308863.1:p.Thr33630Ile
XM_024453096.1:c.100322C>T (TTN)	XP_024308864.1:p.Thr33441Ile
XM_024453097.1:c.97664C>T (TTN)	XP_024308865.1:p.Thr32555Ile
XM_024453098.1:c.97583C>T (TTN)	XP_024308866.1:p.Thr32528Ile
XM_024453099.1:c.79346C>T (TTN)	XP_024308867.1:p.Thr26449Ile
XM_024453100.1:c.69200C>T (TTN)	XP_024308868.1:p.Thr23067Ile