Canonical Allele Identifier: CA378601636

Gene: ARMS2

Linked Data

• gnomAD v4: 10-122454944-A-G
• MyVariant Identifiers: chr10:g.124214460A>G (hg19) ; chr10:g.122454944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122454944A>G , CM000672.2:g.122454944A>G	GRCh38
NC_000010.10:g.124214460A>G , CM000672.1:g.124214460A>G	GRCh37
NC_000010.9:g.124204450A>G	NCBI36
NG_011725.1:g.5282A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.217A>G MANE Select	ENSP00000436682.1:p.Thr73Ala
NM_001099667.1:c.217A>G	NP_001093137.1:p.Thr73Ala
XR_946382.1:n.1827+3551T>C
XR_946383.1:n.1827+3551T>C
XR_946384.1:n.1576+3551T>C
XR_946385.1:n.1905T>C
NM_001099667.2:c.217A>G	NP_001093137.1:p.Thr73Ala
XR_946382.2:n.1855+3551T>C
XR_946383.2:n.1855+3551T>C
XR_946384.2:n.1580+3551T>C
XR_946385.2:n.1933T>C
NM_001099667.3:c.217A>G MANE Select	NP_001093137.1:p.Thr73Ala