Canonical Allele Identifier: CA309355

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202420
• ClinVar RCV Id: RCV000184276 ; RCV000814982 ; RCV004545757
• dbSNP Id: rs794729297
• MyVariant Identifiers: chr2:g.179424385A>C (hg19) ; chr2:g.178559658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559658A>C , CM000664.2:g.178559658A>C	GRCh38
NC_000002.11:g.179424385A>C , CM000664.1:g.179424385A>C	GRCh37
NC_000002.10:g.179132631A>C	NCBI36
NG_011618.3:g.276145T>G , LRG_391:g.276145T>G
NG_051363.1:g.41832A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78770T>G (TTN)	ENSP00000343764.6:p.Leu26257Ter
ENST00000342175.11:c.59855T>G (TTN)	ENSP00000340554.6:p.Leu19952Ter
ENST00000359218.10:c.59654T>G (TTN)	ENSP00000352154.5:p.Leu19885Ter
ENST00000342175.10:c.59855T>G (TTN)	ENSP00000340554.6:p.Leu19952Ter
ENST00000342992.10:c.78770T>G (TTN)	ENSP00000343764.6:p.Leu26257Ter
ENST00000359218.9:c.59654T>G (TTN)	ENSP00000352154.5:p.Leu19885Ter
ENST00000460472.6:c.59279T>G (TTN)	ENSP00000434586.1:p.Leu19760Ter
ENST00000589042.5:c.86474T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu28825Ter
ENST00000591111.5:c.81551T>G (TTN)	ENSP00000465570.1:p.Leu27184Ter
ENST00000615779.4:c.81551T>G (TTN)	ENSP00000483597.1:p.Leu27184Ter
NM_001256850.1:c.81551T>G (TTN)	NP_001243779.1:p.Leu27184Ter
NM_001267550.2:c.86474T>G (TTN) MANE Select	NP_001254479.2:p.Leu28825Ter
NM_003319.4:c.59279T>G (TTN)	NP_003310.4:p.Leu19760Ter
NM_133378.4:c.78770T>G (TTN)	NP_596869.4:p.Leu26257Ter
NM_133432.3:c.59654T>G (TTN)	NP_597676.3:p.Leu19885Ter
NM_133437.4:c.59855T>G (TTN)	NP_597681.4:p.Leu19952Ter
NR_038271.1:n.447-11642A>C (TTN-AS1)
NR_038272.1:n.2043+17297A>C (TTN-AS1)
XM_011511729.1:c.85571T>G (TTN)	XP_011510031.1:p.Leu28524Ter
XM_011511730.1:c.59465T>G (TTN)	XP_011510032.1:p.Leu19822Ter
XM_011511731.1:c.59324T>G (TTN)	XP_011510033.1:p.Leu19775Ter
XM_017004819.1:c.85367T>G (TTN)	XP_016860308.1:p.Leu28456Ter
XM_017004820.1:c.80765T>G (TTN)	XP_016860309.1:p.Leu26922Ter
XM_017004821.1:c.80762T>G (TTN)	XP_016860310.1:p.Leu26921Ter
XM_017004822.1:c.77804T>G (TTN)	XP_016860311.1:p.Leu25935Ter
XM_017004823.1:c.59420T>G (TTN)	XP_016860312.1:p.Leu19807Ter
XM_024453094.1:c.80915T>G (TTN)	XP_024308862.1:p.Leu26972Ter
XM_024453095.1:c.80912T>G (TTN)	XP_024308863.1:p.Leu26971Ter
XM_024453096.1:c.80345T>G (TTN)	XP_024308864.1:p.Leu26782Ter
XM_024453097.1:c.77687T>G (TTN)	XP_024308865.1:p.Leu25896Ter
XM_024453098.1:c.77606T>G (TTN)	XP_024308866.1:p.Leu25869Ter
XM_024453099.1:c.59369T>G (TTN)	XP_024308867.1:p.Leu19790Ter
XM_024453100.1:c.49223T>G (TTN)	XP_024308868.1:p.Leu16408Ter