Canonical Allele Identifier: CA118291
Gene: EPAS1 HGNC NCBI
ClinVar RCV:
RCV000006842
RCV001532400
ClinVar Variation:
6469
dbSNP:
137853036
gnomAD v4:
chr2-46380281-G-A
MyVariant.info:
GRCh38 chr2:g.46380281G>A
GRCh37 chr2:g.46607420G>A
Revel Score:
ENST00000263734 (MANE Select) 0.547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46380281G>A , CM000664.2:g.46380281G>A GRCh38
NC_000002.11:g.46607420G>A , CM000664.1:g.46607420G>A GRCh37
NC_000002.10:g.46460924G>A NCBI36
NG_016000.1:g.87880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.1609G>A MANE Select ENSP00000263734.3:p.Gly537Arg
ENST00000263734.4:c.1609G>A ENSP00000263734.3:p.Gly537Arg
ENST00000466465.5:n.582G>A
NM_001430.4:c.1609G>A NP_001421.2:p.Gly537Arg
XM_011532698.1:c.1648G>A XP_011531000.1:p.Gly550Arg
XM_011532698.2:c.1648G>A XP_011531000.1:p.Gly550Arg
NM_001430.5:c.1609G>A MANE Select NP_001421.2:p.Gly537Arg
Search 100 bp 5'
Search 100 bp 3'