Canonical Allele Identifier: CA933337142

Gene: ARMS2

Linked Data

• dbSNP Id: rs566016204
• gnomAD v3: 10-122455726-C-G
• gnomAD v4: 10-122455726-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122455726C>G , CM000672.2:g.122455726C>G	GRCh38
NC_000010.10:g.124215242C>G , CM000672.1:g.124215242C>G	GRCh37
NC_000010.9:g.124205232C>G	NCBI36
NG_011725.1:g.6064C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.297+702C>G MANE Select	ENSP00000436682.1:n.297+702C>G
NM_001099667.1:c.297+702C>G	NP_001093137.1:n.297+702C>G
XR_946382.1:n.1827+2769G>C
XR_946383.1:n.1827+2769G>C
XR_946384.1:n.1576+2769G>C
XR_946385.1:n.1828-705G>C
NM_001099667.2:c.297+702C>G	NP_001093137.1:n.297+702C>G
XR_946382.2:n.1855+2769G>C
XR_946383.2:n.1855+2769G>C
XR_946384.2:n.1580+2769G>C
XR_946385.2:n.1856-705G>C
NM_001099667.3:c.297+702C>G MANE Select	NP_001093137.1:n.297+702C>G