Canonical Allele Identifier: CA378601561

Gene: ARMS2

Linked Data

• MyVariant Identifiers: chr10:g.124214451A>T (hg19) ; chr10:g.122454935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122454935A>T , CM000672.2:g.122454935A>T	GRCh38
NC_000010.10:g.124214451A>T , CM000672.1:g.124214451A>T	GRCh37
NC_000010.9:g.124204441A>T	NCBI36
NG_011725.1:g.5273A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528446.1:c.208A>T MANE Select	ENSP00000436682.1:p.Lys70Ter
NM_001099667.1:c.208A>T	NP_001093137.1:p.Lys70Ter
XR_946382.1:n.1827+3560T>A
XR_946383.1:n.1827+3560T>A
XR_946384.1:n.1576+3560T>A
XR_946385.1:n.1914T>A
NM_001099667.2:c.208A>T	NP_001093137.1:p.Lys70Ter
XR_946382.2:n.1855+3560T>A
XR_946383.2:n.1855+3560T>A
XR_946384.2:n.1580+3560T>A
XR_946385.2:n.1942T>A
NM_001099667.3:c.208A>T MANE Select	NP_001093137.1:p.Lys70Ter