Canonical Allele Identifier: CA430114037

Gene: TTN

Linked Data

• ClinVar Variation Id: 2932502
• ClinVar RCV Id: RCV003795716
• gnomAD v4: 2-178630927-C-G
• MyVariant Identifiers: chr2:g.179495654C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630927C>G , CM000664.2:g.178630927C>G	GRCh38
NC_000002.11:g.179495654C>G , CM000664.1:g.179495654C>G	GRCh37
NC_000002.10:g.179203899C>G	NCBI36
NG_011618.3:g.204876G>C , LRG_391:g.204876G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36327G>C	ENSP00000343764.6:p.Leu12109=
ENST00000342175.11:c.17412G>C	ENSP00000340554.6:p.Leu5804=
ENST00000359218.10:c.17211G>C	ENSP00000352154.5:p.Leu5737=
ENST00000342175.10:c.17412G>C	ENSP00000340554.6:p.Leu5804=
ENST00000342992.10:c.36327G>C	ENSP00000343764.6:p.Leu12109=
ENST00000359218.9:c.17211G>C	ENSP00000352154.5:p.Leu5737=
ENST00000460472.6:c.16836G>C	ENSP00000434586.1:p.Leu5612=
ENST00000589042.5:c.44031G>C MANE Select	ENSP00000467141.1:p.Leu14677=
ENST00000591111.5:c.39108G>C	ENSP00000465570.1:p.Leu13036=
ENST00000615779.4:c.39108G>C	ENSP00000483597.1:p.Leu13036=
NM_001256850.1:c.39108G>C	NP_001243779.1:p.Leu13036=
NM_001267550.2:c.44031G>C MANE Select	NP_001254479.2:p.Leu14677=
NM_003319.4:c.16836G>C	NP_003310.4:p.Leu5612=
NM_133378.4:c.36327G>C	NP_596869.4:p.Leu12109=
NM_133432.3:c.17211G>C	NP_597676.3:p.Leu5737=
NM_133437.4:c.17412G>C	NP_597681.4:p.Leu5804=
XM_011511729.1:c.43128G>C	XP_011510031.1:p.Leu14376=
XM_011511730.1:c.17022G>C	XP_011510032.1:p.Leu5674=
XM_011511731.1:c.16881G>C	XP_011510033.1:p.Leu5627=
XM_017004819.1:c.42924G>C	XP_016860308.1:p.Leu14308=
XM_017004820.1:c.38322G>C	XP_016860309.1:p.Leu12774=
XM_017004821.1:c.38319G>C	XP_016860310.1:p.Leu12773=
XM_017004822.1:c.35361G>C	XP_016860311.1:p.Leu11787=
XM_017004823.1:c.16977G>C	XP_016860312.1:p.Leu5659=
XM_024453094.1:c.38472G>C	XP_024308862.1:p.Leu12824=
XM_024453095.1:c.38469G>C	XP_024308863.1:p.Leu12823=
XM_024453096.1:c.37902G>C	XP_024308864.1:p.Leu12634=
XM_024453097.1:c.35244G>C	XP_024308865.1:p.Leu11748=
XM_024453098.1:c.35163G>C	XP_024308866.1:p.Leu11721=
XM_024453099.1:c.16926G>C	XP_024308867.1:p.Leu5642=
XM_024453100.1:c.6780G>C	XP_024308868.1:p.Leu2260=