Canonical Allele Identifier: CA5725768

Gene: ARMS2

Linked Data

• ClinVar Variation Id: 299031
• ClinVar RCV Id: RCV000317926 ; RCV001094025
• dbSNP Id: rs7088128
• ExAC: 10:124216410 A / G
• gnomAD v2: 10-124216410-A-G
• gnomAD v3: 10-122456894-A-G
• gnomAD v4: 10-122456894-A-G
• MyVariant Identifiers: chr10:g.124216410A>G (hg19) ; chr10:g.124216410_124216411delinsGT (hg19) ; chr10:g.122456894A>G (hg38) ; chr10:g.122456894_122456895delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122456894A>G , CM000672.2:g.122456894A>G	GRCh38
NC_000010.10:g.124216410A>G , CM000672.1:g.124216410A>G	GRCh37
NC_000010.9:g.124206400A>G	NCBI36
NG_011554.1:g.370A>G
NG_011725.1:g.7232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528446.1:c.298-13A>G MANE Select	ENSP00000436682.1:n.298-13A>G
NM_001099667.1:c.298-13A>G	NP_001093137.1:n.298-13A>G
XR_946382.1:n.1827+1601T>C
XR_946383.1:n.1827+1601T>C
XR_946384.1:n.1576+1601T>C
XR_946385.1:n.1827+1601T>C
NM_001099667.2:c.298-13A>G	NP_001093137.1:n.298-13A>G
XR_946382.2:n.1855+1601T>C
XR_946383.2:n.1855+1601T>C
XR_946384.2:n.1580+1601T>C
XR_946385.2:n.1855+1601T>C
NM_001099667.3:c.298-13A>G MANE Select	NP_001093137.1:n.298-13A>G