Canonical Allele Identifier: CA349406998

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1471451
• ClinVar RCV Id: RCV001975648
• dbSNP Id: rs778126842
• MyVariant Identifiers: chr2:g.179395225G>A (hg19) ; chr2:g.178530498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530498G>A , CM000664.2:g.178530498G>A	GRCh38
NC_000002.11:g.179395225G>A , CM000664.1:g.179395225G>A	GRCh37
NC_000002.10:g.179103471G>A	NCBI36
NG_011618.3:g.305305C>T , LRG_391:g.305305C>T
NG_051363.1:g.12672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98413C>T (TTN)	ENSP00000343764.6:p.Gln32805Ter
ENST00000342175.11:c.79498C>T (TTN)	ENSP00000340554.6:p.Gln26500Ter
ENST00000359218.10:c.79297C>T (TTN)	ENSP00000352154.5:p.Gln26433Ter
ENST00000342175.10:c.79498C>T (TTN)	ENSP00000340554.6:p.Gln26500Ter
ENST00000342992.10:c.98413C>T (TTN)	ENSP00000343764.6:p.Gln32805Ter
ENST00000359218.9:c.79297C>T (TTN)	ENSP00000352154.5:p.Gln26433Ter
ENST00000460472.6:c.78922C>T (TTN)	ENSP00000434586.1:p.Gln26308Ter
ENST00000589042.5:c.106117C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35373Ter
ENST00000591111.5:c.101194C>T (TTN)	ENSP00000465570.1:p.Gln33732Ter
ENST00000615779.4:c.101194C>T (TTN)	ENSP00000483597.1:p.Gln33732Ter
NM_001256850.1:c.101194C>T (TTN)	NP_001243779.1:p.Gln33732Ter
NM_001267550.2:c.106117C>T (TTN) MANE Select	NP_001254479.2:p.Gln35373Ter
NM_003319.4:c.78922C>T (TTN)	NP_003310.4:p.Gln26308Ter
NM_133378.4:c.98413C>T (TTN)	NP_596869.4:p.Gln32805Ter
NM_133432.3:c.79297C>T (TTN)	NP_597676.3:p.Gln26433Ter
NM_133437.4:c.79498C>T (TTN)	NP_597681.4:p.Gln26500Ter
NR_038271.1:n.446+6862G>A (TTN-AS1)
NR_038272.1:n.220-5234G>A (TTN-AS1)
XM_011511729.1:c.105214C>T (TTN)	XP_011510031.1:p.Gln35072Ter
XM_011511730.1:c.79108C>T (TTN)	XP_011510032.1:p.Gln26370Ter
XM_011511731.1:c.78967C>T (TTN)	XP_011510033.1:p.Gln26323Ter
XM_017004819.1:c.105010C>T (TTN)	XP_016860308.1:p.Gln35004Ter
XM_017004820.1:c.100408C>T (TTN)	XP_016860309.1:p.Gln33470Ter
XM_017004821.1:c.100405C>T (TTN)	XP_016860310.1:p.Gln33469Ter
XM_017004822.1:c.97447C>T (TTN)	XP_016860311.1:p.Gln32483Ter
XM_017004823.1:c.79063C>T (TTN)	XP_016860312.1:p.Gln26355Ter
XM_024453094.1:c.100558C>T (TTN)	XP_024308862.1:p.Gln33520Ter
XM_024453095.1:c.100555C>T (TTN)	XP_024308863.1:p.Gln33519Ter
XM_024453096.1:c.99988C>T (TTN)	XP_024308864.1:p.Gln33330Ter
XM_024453097.1:c.97330C>T (TTN)	XP_024308865.1:p.Gln32444Ter
XM_024453098.1:c.97249C>T (TTN)	XP_024308866.1:p.Gln32417Ter
XM_024453099.1:c.79012C>T (TTN)	XP_024308867.1:p.Gln26338Ter
XM_024453100.1:c.68866C>T (TTN)	XP_024308868.1:p.Gln22956Ter