Canonical Allele Identifier: CA10628133

Gene: ARMS2

Linked Data

• ClinVar Variation Id: 299040
• ClinVar RCV Id: RCV000367769
• dbSNP Id: rs886046772
• MyVariant Identifiers: chr10:g.124216826dupA (hg19) ; chr10:g.122457310dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122457310dup , CM000672.2:g.122457310dup	GRCh38
NC_000010.10:g.124216826dup , CM000672.1:g.124216826dup	GRCh37
NC_000010.9:g.124206816dup	NCBI36
NG_011554.1:g.786dup
NG_011725.1:g.7648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528446.1:c.*377dup MANE Select	ENSP00000436682.1:n.*377dup
NM_001099667.1:c.*377dup	NP_001093137.1:n.*377dup
XR_946382.1:n.1827+1185dup
XR_946383.1:n.1827+1185dup
XR_946384.1:n.1576+1185dup
XR_946385.1:n.1827+1185dup
NM_001099667.2:c.*377dup	NP_001093137.1:n.*377dup
XR_946382.2:n.1855+1185dup
XR_946383.2:n.1855+1185dup
XR_946384.2:n.1580+1185dup
XR_946385.2:n.1855+1185dup
NM_001099667.3:c.*377dup MANE Select	NP_001093137.1:n.*377dup