Canonical Allele Identifier: CA349535647

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1215379633
• gnomAD v3: 2-178557809-G-A
• gnomAD v4: 2-178557809-G-A
• MyVariant Identifiers: chr2:g.179422536G>A (hg19) ; chr2:g.178557809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178557809G>A , CM000664.2:g.178557809G>A	GRCh38
NC_000002.11:g.179422536G>A , CM000664.1:g.179422536G>A	GRCh37
NC_000002.10:g.179130782G>A	NCBI36
NG_011618.3:g.277994C>T , LRG_391:g.277994C>T
NG_051363.1:g.39983G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.79841C>T (TTN)	ENSP00000343764.6:p.Thr26614Ile
ENST00000342175.11:c.60926C>T (TTN)	ENSP00000340554.6:p.Thr20309Ile
ENST00000359218.10:c.60725C>T (TTN)	ENSP00000352154.5:p.Thr20242Ile
ENST00000342175.10:c.60926C>T (TTN)	ENSP00000340554.6:p.Thr20309Ile
ENST00000342992.10:c.79841C>T (TTN)	ENSP00000343764.6:p.Thr26614Ile
ENST00000359218.9:c.60725C>T (TTN)	ENSP00000352154.5:p.Thr20242Ile
ENST00000460472.6:c.60350C>T (TTN)	ENSP00000434586.1:p.Thr20117Ile
ENST00000589042.5:c.87545C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29182Ile
ENST00000591111.5:c.82622C>T (TTN)	ENSP00000465570.1:p.Thr27541Ile
ENST00000615779.4:c.82622C>T (TTN)	ENSP00000483597.1:p.Thr27541Ile
NM_001256850.1:c.82622C>T (TTN)	NP_001243779.1:p.Thr27541Ile
NM_001267550.2:c.87545C>T (TTN) MANE Select	NP_001254479.2:p.Thr29182Ile
NM_003319.4:c.60350C>T (TTN)	NP_003310.4:p.Thr20117Ile
NM_133378.4:c.79841C>T (TTN)	NP_596869.4:p.Thr26614Ile
NM_133432.3:c.60725C>T (TTN)	NP_597676.3:p.Thr20242Ile
NM_133437.4:c.60926C>T (TTN)	NP_597681.4:p.Thr20309Ile
NR_038271.1:n.447-13491G>A (TTN-AS1)
NR_038272.1:n.2043+15448G>A (TTN-AS1)
XM_011511729.1:c.86642C>T (TTN)	XP_011510031.1:p.Thr28881Ile
XM_011511730.1:c.60536C>T (TTN)	XP_011510032.1:p.Thr20179Ile
XM_011511731.1:c.60395C>T (TTN)	XP_011510033.1:p.Thr20132Ile
XM_017004819.1:c.86438C>T (TTN)	XP_016860308.1:p.Thr28813Ile
XM_017004820.1:c.81836C>T (TTN)	XP_016860309.1:p.Thr27279Ile
XM_017004821.1:c.81833C>T (TTN)	XP_016860310.1:p.Thr27278Ile
XM_017004822.1:c.78875C>T (TTN)	XP_016860311.1:p.Thr26292Ile
XM_017004823.1:c.60491C>T (TTN)	XP_016860312.1:p.Thr20164Ile
XM_024453094.1:c.81986C>T (TTN)	XP_024308862.1:p.Thr27329Ile
XM_024453095.1:c.81983C>T (TTN)	XP_024308863.1:p.Thr27328Ile
XM_024453096.1:c.81416C>T (TTN)	XP_024308864.1:p.Thr27139Ile
XM_024453097.1:c.78758C>T (TTN)	XP_024308865.1:p.Thr26253Ile
XM_024453098.1:c.78677C>T (TTN)	XP_024308866.1:p.Thr26226Ile
XM_024453099.1:c.60440C>T (TTN)	XP_024308867.1:p.Thr20147Ile
XM_024453100.1:c.50294C>T (TTN)	XP_024308868.1:p.Thr16765Ile