Canonical Allele Identifier: CA5725712
Gene: ARMS2 HGNC NCBI
COSMIC:
COSM1346402 (not active)
MyVariant.info:
GRCh38 chr10:g.122454735G>A
GRCh37 chr10:g.124214251G>A
Revel Score:
ENST00000528446 (MANE Select) 0.021
gnomAD v2:
10:124214251 G / A
gnomAD v3:
10:122454735 G / A
gnomAD v4:
chr10-122454735-G-A
Joint Max Group AF 0.17115538 (MID)
Genomes Max Group AF 0.14022793 (SAS)
Exomes Max Group AF 0.16937029 (MID)
ClinVar RCV:
RCV000275891
ClinVar Variation:
299028
dbSNP:
10490923
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122454735G>A , CM000672.2:g.122454735G>A GRCh38
NC_000010.10:g.124214251G>A , CM000672.1:g.124214251G>A GRCh37
NC_000010.9:g.124204241G>A NCBI36
NG_011725.1:g.5073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528446.1:c.8G>A MANE Select ENSP00000436682.1:p.Arg3His
NM_001099667.1:c.8G>A NP_001093137.1:p.Arg3His
XR_946382.1:n.1827+3760C>T
XR_946383.1:n.1827+3760C>T
XR_946384.1:n.1576+3760C>T
NM_001099667.2:c.8G>A NP_001093137.1:p.Arg3His
XR_946382.2:n.1855+3760C>T
XR_946383.2:n.1855+3760C>T
XR_946384.2:n.1580+3760C>T
NM_001099667.3:c.8G>A MANE Select NP_001093137.1:p.Arg3His
Search 100 bp 5'
Search 100 bp 3'