Canonical Allele Identifier: CA349411599

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532133-C-A
• MyVariant Identifiers: chr2:g.179396860C>A (hg19) ; chr2:g.178532133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532133C>A , CM000664.2:g.178532133C>A	GRCh38
NC_000002.11:g.179396860C>A , CM000664.1:g.179396860C>A	GRCh37
NC_000002.10:g.179105106C>A	NCBI36
NG_011618.3:g.303670G>T , LRG_391:g.303670G>T
NG_051363.1:g.14307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96778G>T (TTN)	ENSP00000343764.6:p.Glu32260Ter
ENST00000342175.11:c.77863G>T (TTN)	ENSP00000340554.6:p.Glu25955Ter
ENST00000359218.10:c.77662G>T (TTN)	ENSP00000352154.5:p.Glu25888Ter
ENST00000342175.10:c.77863G>T (TTN)	ENSP00000340554.6:p.Glu25955Ter
ENST00000342992.10:c.96778G>T (TTN)	ENSP00000343764.6:p.Glu32260Ter
ENST00000359218.9:c.77662G>T (TTN)	ENSP00000352154.5:p.Glu25888Ter
ENST00000460472.6:c.77287G>T (TTN)	ENSP00000434586.1:p.Glu25763Ter
ENST00000589042.5:c.104482G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34828Ter
ENST00000591111.5:c.99559G>T (TTN)	ENSP00000465570.1:p.Glu33187Ter
ENST00000615779.4:c.99559G>T (TTN)	ENSP00000483597.1:p.Glu33187Ter
NM_001256850.1:c.99559G>T (TTN)	NP_001243779.1:p.Glu33187Ter
NM_001267550.2:c.104482G>T (TTN) MANE Select	NP_001254479.2:p.Glu34828Ter
NM_003319.4:c.77287G>T (TTN)	NP_003310.4:p.Glu25763Ter
NM_133378.4:c.96778G>T (TTN)	NP_596869.4:p.Glu32260Ter
NM_133432.3:c.77662G>T (TTN)	NP_597676.3:p.Glu25888Ter
NM_133437.4:c.77863G>T (TTN)	NP_597681.4:p.Glu25955Ter
NR_038271.1:n.446+8497C>A (TTN-AS1)
NR_038272.1:n.220-3599C>A (TTN-AS1)
XM_011511729.1:c.103579G>T (TTN)	XP_011510031.1:p.Glu34527Ter
XM_011511730.1:c.77473G>T (TTN)	XP_011510032.1:p.Glu25825Ter
XM_011511731.1:c.77332G>T (TTN)	XP_011510033.1:p.Glu25778Ter
XM_017004819.1:c.103375G>T (TTN)	XP_016860308.1:p.Glu34459Ter
XM_017004820.1:c.98773G>T (TTN)	XP_016860309.1:p.Glu32925Ter
XM_017004821.1:c.98770G>T (TTN)	XP_016860310.1:p.Glu32924Ter
XM_017004822.1:c.95812G>T (TTN)	XP_016860311.1:p.Glu31938Ter
XM_017004823.1:c.77428G>T (TTN)	XP_016860312.1:p.Glu25810Ter
XM_024453094.1:c.98923G>T (TTN)	XP_024308862.1:p.Glu32975Ter
XM_024453095.1:c.98920G>T (TTN)	XP_024308863.1:p.Glu32974Ter
XM_024453096.1:c.98353G>T (TTN)	XP_024308864.1:p.Glu32785Ter
XM_024453097.1:c.95695G>T (TTN)	XP_024308865.1:p.Glu31899Ter
XM_024453098.1:c.95614G>T (TTN)	XP_024308866.1:p.Glu31872Ter
XM_024453099.1:c.77377G>T (TTN)	XP_024308867.1:p.Glu25793Ter
XM_024453100.1:c.67231G>T (TTN)	XP_024308868.1:p.Glu22411Ter