Canonical Allele Identifier: CA349645187

Gene: TTN

Linked Data

• ClinVar Variation Id: 1328881
• ClinVar RCV Id: RCV001797513
• dbSNP Id: rs2154219895
• MyVariant Identifiers: chr2:g.179494982T>G (hg19) ; chr2:g.178630255T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630255T>G , CM000664.2:g.178630255T>G	GRCh38
NC_000002.11:g.179494982T>G , CM000664.1:g.179494982T>G	GRCh37
NC_000002.10:g.179203227T>G	NCBI36
NG_011618.3:g.205548A>C , LRG_391:g.205548A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36563A>C	ENSP00000343764.6:p.His12188Pro
ENST00000342175.11:c.17648A>C	ENSP00000340554.6:p.His5883Pro
ENST00000359218.10:c.17447A>C	ENSP00000352154.5:p.His5816Pro
ENST00000342175.10:c.17648A>C	ENSP00000340554.6:p.His5883Pro
ENST00000342992.10:c.36563A>C	ENSP00000343764.6:p.His12188Pro
ENST00000359218.9:c.17447A>C	ENSP00000352154.5:p.His5816Pro
ENST00000460472.6:c.17072A>C	ENSP00000434586.1:p.His5691Pro
ENST00000589042.5:c.44267A>C MANE Select	ENSP00000467141.1:p.His14756Pro
ENST00000591111.5:c.39344A>C	ENSP00000465570.1:p.His13115Pro
ENST00000615779.4:c.39344A>C	ENSP00000483597.1:p.His13115Pro
NM_001256850.1:c.39344A>C	NP_001243779.1:p.His13115Pro
NM_001267550.2:c.44267A>C MANE Select	NP_001254479.2:p.His14756Pro
NM_003319.4:c.17072A>C	NP_003310.4:p.His5691Pro
NM_133378.4:c.36563A>C	NP_596869.4:p.His12188Pro
NM_133432.3:c.17447A>C	NP_597676.3:p.His5816Pro
NM_133437.4:c.17648A>C	NP_597681.4:p.His5883Pro
XM_011511729.1:c.43364A>C	XP_011510031.1:p.His14455Pro
XM_011511730.1:c.17258A>C	XP_011510032.1:p.His5753Pro
XM_011511731.1:c.17117A>C	XP_011510033.1:p.His5706Pro
XM_017004819.1:c.43160A>C	XP_016860308.1:p.His14387Pro
XM_017004820.1:c.38558A>C	XP_016860309.1:p.His12853Pro
XM_017004821.1:c.38555A>C	XP_016860310.1:p.His12852Pro
XM_017004822.1:c.35597A>C	XP_016860311.1:p.His11866Pro
XM_017004823.1:c.17213A>C	XP_016860312.1:p.His5738Pro
XM_024453094.1:c.38708A>C	XP_024308862.1:p.His12903Pro
XM_024453095.1:c.38705A>C	XP_024308863.1:p.His12902Pro
XM_024453096.1:c.38138A>C	XP_024308864.1:p.His12713Pro
XM_024453097.1:c.35480A>C	XP_024308865.1:p.His11827Pro
XM_024453098.1:c.35399A>C	XP_024308866.1:p.His11800Pro
XM_024453099.1:c.17162A>C	XP_024308867.1:p.His5721Pro
XM_024453100.1:c.7016A>C	XP_024308868.1:p.His2339Pro