Canonical Allele Identifier: CA349568154

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466662
• ClinVar RCV Id: RCV001377930
• dbSNP Id: rs769862471
• MyVariant Identifiers: chr2:g.179427514G>C (hg19) ; chr2:g.178562787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562787G>C , CM000664.2:g.178562787G>C	GRCh38
NC_000002.11:g.179427514G>C , CM000664.1:g.179427514G>C	GRCh37
NC_000002.10:g.179135760G>C	NCBI36
NG_011618.3:g.273016C>G , LRG_391:g.273016C>G
NG_051363.1:g.44961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.75641C>G (TTN)	ENSP00000343764.6:p.Ser25214Ter
ENST00000342175.11:c.56726C>G (TTN)	ENSP00000340554.6:p.Ser18909Ter
ENST00000359218.10:c.56525C>G (TTN)	ENSP00000352154.5:p.Ser18842Ter
ENST00000342175.10:c.56726C>G (TTN)	ENSP00000340554.6:p.Ser18909Ter
ENST00000342992.10:c.75641C>G (TTN)	ENSP00000343764.6:p.Ser25214Ter
ENST00000359218.9:c.56525C>G (TTN)	ENSP00000352154.5:p.Ser18842Ter
ENST00000460472.6:c.56150C>G (TTN)	ENSP00000434586.1:p.Ser18717Ter
ENST00000589042.5:c.83345C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser27782Ter
ENST00000591111.5:c.78422C>G (TTN)	ENSP00000465570.1:p.Ser26141Ter
ENST00000615779.4:c.78422C>G (TTN)	ENSP00000483597.1:p.Ser26141Ter
NM_001256850.1:c.78422C>G (TTN)	NP_001243779.1:p.Ser26141Ter
NM_001267550.2:c.83345C>G (TTN) MANE Select	NP_001254479.2:p.Ser27782Ter
NM_003319.4:c.56150C>G (TTN)	NP_003310.4:p.Ser18717Ter
NM_133378.4:c.75641C>G (TTN)	NP_596869.4:p.Ser25214Ter
NM_133432.3:c.56525C>G (TTN)	NP_597676.3:p.Ser18842Ter
NM_133437.4:c.56726C>G (TTN)	NP_597681.4:p.Ser18909Ter
NR_038271.1:n.447-8513G>C (TTN-AS1)
NR_038272.1:n.2044-19785G>C (TTN-AS1)
XM_011511729.1:c.82442C>G (TTN)	XP_011510031.1:p.Ser27481Ter
XM_011511730.1:c.56336C>G (TTN)	XP_011510032.1:p.Ser18779Ter
XM_011511731.1:c.56195C>G (TTN)	XP_011510033.1:p.Ser18732Ter
XM_017004819.1:c.82238C>G (TTN)	XP_016860308.1:p.Ser27413Ter
XM_017004820.1:c.77636C>G (TTN)	XP_016860309.1:p.Ser25879Ter
XM_017004821.1:c.77633C>G (TTN)	XP_016860310.1:p.Ser25878Ter
XM_017004822.1:c.74675C>G (TTN)	XP_016860311.1:p.Ser24892Ter
XM_017004823.1:c.56291C>G (TTN)	XP_016860312.1:p.Ser18764Ter
XM_024453094.1:c.77786C>G (TTN)	XP_024308862.1:p.Ser25929Ter
XM_024453095.1:c.77783C>G (TTN)	XP_024308863.1:p.Ser25928Ter
XM_024453096.1:c.77216C>G (TTN)	XP_024308864.1:p.Ser25739Ter
XM_024453097.1:c.74558C>G (TTN)	XP_024308865.1:p.Ser24853Ter
XM_024453098.1:c.74477C>G (TTN)	XP_024308866.1:p.Ser24826Ter
XM_024453099.1:c.56240C>G (TTN)	XP_024308867.1:p.Ser18747Ter
XM_024453100.1:c.46094C>G (TTN)	XP_024308868.1:p.Ser15365Ter