Canonical Allele Identifier: CA378601595

Gene: ARMS2

Linked Data

• MyVariant Identifiers: chr10:g.124214457C>G (hg19) ; chr10:g.122454941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122454941C>G , CM000672.2:g.122454941C>G	GRCh38
NC_000010.10:g.124214457C>G , CM000672.1:g.124214457C>G	GRCh37
NC_000010.9:g.124204447C>G	NCBI36
NG_011725.1:g.5279C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.214C>G MANE Select	ENSP00000436682.1:p.His72Asp
NM_001099667.1:c.214C>G	NP_001093137.1:p.His72Asp
XR_946382.1:n.1827+3554G>C
XR_946383.1:n.1827+3554G>C
XR_946384.1:n.1576+3554G>C
XR_946385.1:n.1908G>C
NM_001099667.2:c.214C>G	NP_001093137.1:p.His72Asp
XR_946382.2:n.1855+3554G>C
XR_946383.2:n.1855+3554G>C
XR_946384.2:n.1580+3554G>C
XR_946385.2:n.1936G>C
NM_001099667.3:c.214C>G MANE Select	NP_001093137.1:p.His72Asp